Linked Data
ClinVar Variation Id:
3604
ClinVar RCV Id:
RCV001851628
dbSNP Id:
rs121434272
ExAC:
3:71830623 G / A
gnomAD v2:
3-71830623-G-A
gnomAD v3:
3-71781472-G-A
gnomAD v4:
3-71781472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.71781472G>A , CM000665.2:g.71781472G>A | GRCh38 |
| NC_000003.11:g.71830623G>A , CM000665.1:g.71830623G>A | GRCh37 |
| NC_000003.10:g.71913313G>A | NCBI36 |
| NG_008275.1:g.8735C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295619.4:c.217C>T MANE Select | ENSP00000295619.3:p.Arg73Cys | |
| ENST00000295619.3:c.217C>T | ENSP00000295619.3:p.Arg73Cys | |
| ENST00000353065.7:c.217C>T | ENSP00000295618.3:p.Arg73Cys | |
| NM_001126128.1:c.217C>T | NP_001119600.1:p.Arg73Cys | |
| NM_021935.3:c.217C>T | NP_068754.1:p.Arg73Cys | |
| XM_017006974.1:c.157C>T | XP_016862463.1:p.Arg53Cys | |
| NM_001126128.2:c.217C>T MANE Select | NP_001119600.1:p.Arg73Cys | |
| NM_021935.4:c.217C>T | NP_068754.1:p.Arg73Cys |