Linked Data
ClinVar Variation Id:
226128
dbSNP Id:
rs780705654
ExAC:
7:23207535 C / T
gnomAD v2:
7-23207535-C-T
gnomAD v3:
7-23167916-C-T
gnomAD v4:
7-23167916-C-T
PubMed:
PMID:27392078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23167916C>T , CM000669.2:g.23167916C>T | GRCh38 |
| NC_000007.13:g.23207535C>T , CM000669.1:g.23207535C>T | GRCh37 |
| NC_000007.12:g.23174060C>T | NCBI36 |
| NG_016983.1:g.67183C>T | |
| NG_016983.2:g.67183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1258C>T MANE Select | ENSP00000343273.4:p.Arg420Cys | |
| ENST00000339077.9:c.1258C>T | ENSP00000343273.4:p.Arg420Cys | |
| ENST00000409689.5:c.1114C>T | ENSP00000386263.1:p.Arg372Cys | |
| ENST00000469576.1:n.145C>T | ||
| ENST00000521082.5:c.*1266C>T | ENSP00000430351.1:n.*1266C>T | |
| NM_001031710.2:c.1258C>T | NP_001026880.2:p.Arg420Cys | |
| NM_018846.4:c.1114C>T | NP_061334.4:p.Arg372Cys | |
| NR_033328.1:n.1682C>T | ||
| XM_006715753.1:c.1297C>T | XP_006715816.1:p.Arg433Cys | |
| XM_006715754.1:c.1231C>T | XP_006715817.1:p.Arg411Cys | |
| XM_006715755.1:c.1231C>T | XP_006715818.1:p.Arg411Cys | |
| XM_006715756.1:c.1153C>T | XP_006715819.1:p.Arg385Cys | |
| XM_006715753.3:c.1297C>T | XP_006715816.1:p.Arg433Cys | |
| XM_006715754.3:c.1231C>T | XP_006715817.1:p.Arg411Cys | |
| XM_006715755.3:c.1231C>T | XP_006715818.1:p.Arg411Cys | |
| XM_006715756.3:c.1153C>T | XP_006715819.1:p.Arg385Cys | |
| XM_017012439.2:c.1192C>T | XP_016867928.1:p.Arg398Cys | |
| NM_001031710.3:c.1258C>T MANE Select | NP_001026880.2:p.Arg420Cys | |
| NM_018846.5:c.1114C>T | NP_061334.4:p.Arg372Cys | |
| NR_033328.2:n.1631C>T |