Linked Data
ClinVar Variation Id:
2231647
ClinVar RCV Id:
RCV002708181
dbSNP Id:
rs139106853
ExAC:
12:105583601 G / A
gnomAD v2:
12-105583601-G-A
gnomAD v3:
12-105189823-G-A
gnomAD v4:
12-105189823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189823G>A , CM000674.2:g.105189823G>A | GRCh38 |
| NC_000012.11:g.105583601G>A , CM000674.1:g.105583601G>A | GRCh37 |
| NC_000012.10:g.104107731G>A | NCBI36 |
| NG_030419.1:g.51408C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258530.8:c.1408C>T MANE Select | ENSP00000258530.3:p.Arg470Cys | |
| ENST00000258530.7:c.1408C>T | ENSP00000258530.3:p.Arg470Cys | |
| ENST00000539978.6:c.1279C>T | ENSP00000444472.2:p.Arg427Cys | |
| ENST00000547439.5:c.*693C>T | ENSP00000449410.1:n.*693C>T | |
| ENST00000547809.5:n.1418C>T | ||
| ENST00000551662.5:c.1426C>T | ENSP00000446917.1:p.Arg476Cys | |
| ENST00000552945.1:n.248C>T | ||
| ENST00000553109.1:c.52C>T | ENSP00000446510.1:p.Arg18Cys | |
| NM_001251904.1:c.1426C>T | NP_001238833.1:p.Arg476Cys | |
| NM_001251905.1:c.1279C>T | NP_001238834.1:p.Arg427Cys | |
| NM_018171.3:c.1408C>T | NP_060641.2:p.Arg470Cys | |
| XM_006719472.1:c.1426C>T | XP_006719535.1:p.Arg476Cys | |
| XM_011538530.1:c.1387C>T | XP_011536832.1:p.Arg463Cys | |
| XM_011538531.1:c.1297C>T | XP_011536833.1:p.Arg433Cys | |
| XM_011538532.1:c.1297C>T | XP_011536834.1:p.Arg433Cys | |
| XM_011538530.3:c.1387C>T | XP_011536832.1:p.Arg463Cys | |
| XM_011538531.3:c.1297C>T | XP_011536833.1:p.Arg433Cys | |
| XM_011538532.3:c.1297C>T | XP_011536834.1:p.Arg433Cys | |
| XM_017019551.2:c.1369C>T | XP_016875040.1:p.Arg457Cys | |
| XM_017019552.2:c.1279C>T | XP_016875041.1:p.Arg427Cys | |
| XM_017019553.2:c.1279C>T | XP_016875042.1:p.Arg427Cys | |
| XM_017019554.1:c.1408C>T | XP_016875043.1:p.Arg470Cys | |
| XR_001748795.1:n.1588C>T | ||
| XR_001748796.1:n.1570C>T | ||
| NM_018171.4:c.1408C>T | NP_060641.2:p.Arg470Cys | |
| NM_018171.5:c.1408C>T MANE Select | NP_060641.2:p.Arg470Cys | |
| NM_001251904.2:c.1426C>T | NP_001238833.1:p.Arg476Cys | |
| NM_001251905.2:c.1279C>T | NP_001238834.1:p.Arg427Cys |