Linked Data
ClinVar Variation Id:
2137577
ClinVar RCV Id:
RCV003058435
dbSNP Id:
rs745489756
ExAC:
1:115215809 G / A
gnomAD v2:
1-115215809-G-A
gnomAD v3:
1-114673188-G-A
gnomAD v4:
1-114673188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114673188G>A , CM000663.2:g.114673188G>A | GRCh38 |
| NC_000001.10:g.115215809G>A , CM000663.1:g.115215809G>A | GRCh37 |
| NC_000001.9:g.115017332G>A | NCBI36 |
| NG_008012.1:g.27368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.2158C>T | ENSP00000358551.4:p.Arg720Cys | |
| ENST00000520113.7:c.2170C>T MANE Select | ENSP00000430075.3:p.Arg724Cys | |
| ENST00000637080.1:c.1953C>T | ENSP00000489753.1:n.1953C>T | |
| ENST00000638214.1:n.1283C>T | ||
| ENST00000639077.1:n.1692C>T | ||
| ENST00000639274.1:n.800C>T | ||
| ENST00000369538.3:c.2257C>T | ENSP00000358551.3:p.Arg753Cys | |
| ENST00000520113.6:c.2269C>T | ENSP00000430075.2:p.Arg757Cys | |
| NM_000036.2:c.2269C>T | NP_000027.2:p.Arg757Cys | |
| NM_001172626.1:c.2257C>T | NP_001166097.1:p.Arg753Cys | |
| NM_000036.3:c.2170C>T MANE Select | NP_000027.3:p.Arg724Cys | |
| NM_001172626.2:c.2158C>T | NP_001166097.2:p.Arg720Cys |