Linked Data
dbSNP Id:
rs1347092200
gnomAD v2:
9-116153890-G-A
gnomAD v3:
9-113391610-G-A
gnomAD v4:
9-113391610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113391610G>A , CM000671.2:g.113391610G>A | GRCh38 |
| NC_000009.11:g.116153890G>A , CM000671.1:g.116153890G>A | GRCh37 |
| NC_000009.10:g.115193711G>A | NCBI36 |
| NG_008716.1:g.14729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.178C>T MANE Select | ENSP00000386284.3:p.Arg60Trp | |
| ENST00000409155.7:c.178C>T | ENSP00000386284.3:p.Arg60Trp | |
| ENST00000448137.5:c.205C>T | ENSP00000392748.1:p.Arg69Trp | |
| ENST00000464749.5:n.258-677C>T | ||
| ENST00000468504.5:n.300C>T | ||
| ENST00000482001.1:n.451C>T | ||
| ENST00000482847.5:n.451C>T | ||
| NM_000031.5:c.178C>T | NP_000022.3:p.Arg60Trp | |
| XM_005251799.1:c.265C>T | XP_005251856.1:p.Arg89Trp | |
| XM_011518363.1:c.304C>T | XP_011516665.1:p.Arg102Trp | |
| XM_011518364.1:c.205C>T | XP_011516666.1:p.Arg69Trp | |
| NM_001003945.2:c.265C>T | NP_001003945.1:p.Arg89Trp | |
| NM_001317745.1:c.154C>T | NP_001304674.1:p.Arg52Trp | |
| XM_011518364.2:c.205C>T | XP_011516666.1:p.Arg69Trp | |
| XM_024447449.1:c.265C>T | XP_024303217.1:p.Arg89Trp | |
| XR_002956764.1:n.678C>T | ||
| NM_000031.6:c.178C>T MANE Select | NP_000022.3:p.Arg60Trp | |
| NM_001003945.3:c.265C>T | NP_001003945.1:p.Arg89Trp | |
| NM_001317745.2:c.154C>T | NP_001304674.1:p.Arg52Trp |