Linked Data
ClinVar Variation Id:
14321
ClinVar RCV Id:
RCV000015397
dbSNP Id:
rs121913558
gnomAD v4:
18-60372178-T-A
PubMed:
PMID:11487744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372178T>A , CM000680.2:g.60372178T>A | GRCh38 |
| NC_000018.9:g.58039411T>A , CM000680.1:g.58039411T>A | GRCh37 |
| NC_000018.8:g.56190391T>A | NCBI36 |
| NG_016441.1:g.5591A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.172A>T MANE Select | ENSP00000299766.3:p.Ser58Cys | |
| ENST00000299766.4:c.172A>T | ENSP00000299766.3:p.Ser58Cys | |
| NM_005912.2:c.172A>T | NP_005903.2:p.Ser58Cys | |
| NM_005912.3:c.172A>T MANE Select | NP_005903.2:p.Ser58Cys |