Linked Data
ClinVar Variation Id:
593375
ClinVar RCV Id:
RCV000728398
dbSNP Id:
rs1315027057
gnomAD v4:
10-72008268-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008268G>T , CM000672.2:g.72008268G>T | GRCh38 |
| NC_000010.10:g.73768026G>T , CM000672.1:g.73768026G>T | GRCh37 |
| NC_000010.9:g.73438032G>T | NCBI36 |
| NG_012635.1:g.48907G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1237G>T MANE Select | ENSP00000362207.4:p.Gly413Cys | |
| ENST00000373115.4:c.1237G>T | ENSP00000362207.4:p.Gly413Cys | |
| NM_004273.4:c.1237G>T | NP_004264.2:p.Gly413Cys | |
| XM_006718075.2:c.1237G>T | XP_006718138.1:p.Gly413Cys | |
| XM_011540369.1:c.1237G>T | XP_011538671.1:p.Gly413Cys | |
| XM_006718075.4:c.1237G>T | XP_006718138.1:p.Gly413Cys | |
| XM_011540369.2:c.1237G>T | XP_011538671.1:p.Gly413Cys | |
| NM_004273.5:c.1237G>T MANE Select | NP_004264.2:p.Gly413Cys |