Linked Data
ClinVar Variation Id:
372328
ClinVar RCV Id:
RCV000414476
dbSNP Id:
rs1057517719
gnomAD v2:
13-110857714-G-A
gnomAD v4:
13-110205367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110205367G>A , CM000675.2:g.110205367G>A | GRCh38 |
| NC_000013.10:g.110857714G>A , CM000675.1:g.110857714G>A | GRCh37 |
| NC_000013.9:g.109655715G>A | NCBI36 |
| NG_011544.2:g.106783C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.943C>T MANE Select | ENSP00000364979.4:p.Arg315Cys | |
| ENST00000543140.6:c.943C>T | ENSP00000443348.1:p.Arg315Cys | |
| ENST00000647632.1:n.576C>T | ||
| ENST00000647797.1:c.822C>T | ||
| ENST00000649738.1:n.1073C>T | ||
| ENST00000375820.8:c.943C>T | ENSP00000364979.4:p.Arg315Cys | |
| ENST00000543140.5:c.943C>T | ENSP00000443348.1:p.Arg315Cys | |
| NM_001303110.1:c.943C>T | NP_001290039.1:p.Arg315Cys | |
| NM_001845.5:c.943C>T | NP_001836.3:p.Arg315Cys | |
| XM_011521048.1:c.751C>T | XP_011519350.1:p.Arg251Cys | |
| XM_011521048.2:c.751C>T | XP_011519350.1:p.Arg251Cys | |
| NM_001845.6:c.943C>T MANE Select | NP_001836.3:p.Arg315Cys | |
| NM_001303110.2:c.943C>T | NP_001290039.1:p.Arg315Cys |