Linked Data
ClinVar Variation Id:
1494928
ClinVar RCV Id:
RCV002015133
dbSNP Id:
rs61750419
ExAC:
7:92131228 G / A
gnomAD v2:
7-92131228-G-A
gnomAD v3:
7-92501914-G-A
gnomAD v4:
7-92501914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501914G>A , CM000669.2:g.92501914G>A | GRCh38 |
| NC_000007.13:g.92131228G>A , CM000669.1:g.92131228G>A | GRCh37 |
| NC_000007.12:g.91969164G>A | NCBI36 |
| NG_008341.1:g.31618C>T | |
| NG_008341.2:g.31618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2392C>T MANE Select | ENSP00000248633.4:p.Arg798Cys | |
| ENST00000248633.8:c.2392C>T | ENSP00000248633.4:p.Arg798Cys | |
| ENST00000428214.5:c.2221C>T | ENSP00000394413.1:p.Arg741Cys | |
| ENST00000438045.5:c.1426C>T | ENSP00000410438.1:p.Arg476Cys | |
| ENST00000484913.5:n.2431C>T | ||
| ENST00000496092.1:n.190C>T | ||
| ENST00000496420.5:n.2068C>T | ||
| NM_000466.2:c.2392C>T | NP_000457.1:p.Arg798Cys | |
| NM_001282677.1:c.2221C>T | NP_001269606.1:p.Arg741Cys | |
| NM_001282678.1:c.1768C>T | NP_001269607.1:p.Arg590Cys | |
| XM_005250433.3:c.643C>T | XP_005250490.1:p.Arg215Cys | |
| XR_242246.3:n.2488C>T | ||
| XM_017012319.2:c.643C>T | XP_016867808.1:p.Arg215Cys | |
| XR_001744808.2:n.1419C>T | ||
| XR_242246.5:n.2439C>T | ||
| NM_000466.3:c.2392C>T MANE Select | NP_000457.1:p.Arg798Cys | |
| NM_001282677.2:c.2221C>T | NP_001269606.1:p.Arg741Cys | |
| NM_001282678.2:c.1768C>T | NP_001269607.1:p.Arg590Cys |