Linked Data
ClinVar Variation Id:
16863
dbSNP Id:
rs121912981
ExAC:
9:116151365 C / T
gnomAD v2:
9-116151365-C-T
gnomAD v3:
9-113389085-C-T
gnomAD v4:
9-113389085-C-T
PubMed:
PMID:2063868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389085C>T , CM000671.2:g.113389085C>T | GRCh38 |
| NC_000009.11:g.116151365C>T , CM000671.1:g.116151365C>T | GRCh37 |
| NC_000009.10:g.115191186C>T | NCBI36 |
| NG_008716.1:g.17254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409155.8:c.823G>A MANE Select | ENSP00000386284.3:p.Val275Met | |
| ENST00000409155.7:c.823G>A | ENSP00000386284.3:p.Val275Met | |
| ENST00000482847.5:n.1096G>A | ||
| NM_000031.5:c.823G>A | NP_000022.3:p.Val275Met | |
| XM_005251799.1:c.910G>A | XP_005251856.1:p.Val304Met | |
| XM_011518363.1:c.949G>A | XP_011516665.1:p.Val317Met | |
| XM_011518364.1:c.850G>A | XP_011516666.1:p.Val284Met | |
| NM_001003945.2:c.910G>A | NP_001003945.1:p.Val304Met | |
| NM_001317745.1:c.799G>A | NP_001304674.1:p.Val267Met | |
| XM_011518364.2:c.850G>A | XP_011516666.1:p.Val284Met | |
| XM_024447449.1:c.910G>A | XP_024303217.1:p.Val304Met | |
| NM_000031.6:c.823G>A MANE Select | NP_000022.3:p.Val275Met | |
| NM_001003945.3:c.910G>A | NP_001003945.1:p.Val304Met | |
| NM_001317745.2:c.799G>A | NP_001304674.1:p.Val267Met |