Linked Data
dbSNP Id:
rs745845598
ExAC:
9:116151290 C / T
gnomAD v2:
9-116151290-C-T
gnomAD v4:
9-113389010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389010C>T , CM000671.2:g.113389010C>T | GRCh38 |
| NC_000009.11:g.116151290C>T , CM000671.1:g.116151290C>T | GRCh37 |
| NC_000009.10:g.115191111C>T | NCBI36 |
| NG_008716.1:g.17329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.898G>A MANE Select | ENSP00000386284.3:p.Val300Ile | |
| ENST00000409155.7:c.898G>A | ENSP00000386284.3:p.Val300Ile | |
| ENST00000482847.5:n.1171G>A | ||
| NM_000031.5:c.898G>A | NP_000022.3:p.Val300Ile | |
| XM_005251799.1:c.985G>A | XP_005251856.1:p.Val329Ile | |
| XM_011518363.1:c.1024G>A | XP_011516665.1:p.Val342Ile | |
| XM_011518364.1:c.925G>A | XP_011516666.1:p.Val309Ile | |
| NM_001003945.2:c.985G>A | NP_001003945.1:p.Val329Ile | |
| NM_001317745.1:c.874G>A | NP_001304674.1:p.Val292Ile | |
| XM_011518364.2:c.925G>A | XP_011516666.1:p.Val309Ile | |
| XM_024447449.1:c.985G>A | XP_024303217.1:p.Val329Ile | |
| NM_000031.6:c.898G>A MANE Select | NP_000022.3:p.Val300Ile | |
| NM_001003945.3:c.985G>A | NP_001003945.1:p.Val329Ile | |
| NM_001317745.2:c.874G>A | NP_001304674.1:p.Val292Ile |