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Variants (7)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 141 | G253C GLY253CYS | ENST00000367922.3:c.757G>T,NC_000001.10:g.162729671G>T | missense_variant |
| 142 | G505S GLY505SER,RS115169993 | NM_006182.2:c.1513G>A,NP_006173.2:p.Gly505Ser,ENST00000367922.3:c.1513G>A,NC_000001.10:g.162741822G>A | missense_variant |
| 144 | G774V GLY774VAL | ENST00000367922.3:c.2321G>T,NC_000001.10:g.162748407G>T | missense_variant |
| 143 | I638F ILE638PHE,RS1057519789 | ENST00000367922.3:c.1912A>T,NC_000001.10:g.162745497A>T,NM_001014796.1:c.1912A>T,NP_001014796.1:p.Ile638Phe | missense_variant |
| 140 | L239R LEU239ARG | ENST00000367922.3:c.716T>G,NC_000001.10:g.162729630T>G | missense_variant |
| 139 | L63V LEU63VAL | NM_006182.2:c.187C>G,NP_006173.2:p.Leu63Val,ENST00000367922.3:c.187C>G,NC_000001.10:g.162724415C>G | missense_variant |
| 145 | S768R SER768ARG | ENST00000367922.3:c.2304T>A,NC_000001.10:g.162748390T>A | missense_variant |