Linked Data
ClinVar Variation Id:
2604891
ClinVar RCV Id:
RCV003359554
dbSNP Id:
rs1055219640
gnomAD v2:
1-1470975-G-A
gnomAD v3:
1-1535595-G-A
gnomAD v4:
1-1535595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535595G>A , CM000663.2:g.1535595G>A | GRCh38 |
| NC_000001.10:g.1470975G>A , CM000663.1:g.1470975G>A | GRCh37 |
| NC_000001.9:g.1460838G>A | NCBI36 |
| NG_041807.1:g.9766C>T | |
| NG_053035.1:g.28453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.367C>T MANE Select | ENSP00000368007.4:p.Arg123Cys | |
| ENST00000378733.8:c.367C>T | ENSP00000368007.4:p.Arg123Cys | |
| ENST00000425828.1:c.367C>T | ENSP00000400311.1:p.Arg123Cys | |
| NM_001114748.1:c.367C>T | NP_001108220.1:p.Arg123Cys | |
| NM_001114748.2:c.367C>T MANE Select | NP_001108220.1:p.Arg123Cys |