Linked Data
ClinVar Variation Id:
1000
dbSNP Id:
rs13266634
ExAC:
8:118184783 C / T
gnomAD v2:
8-118184783-C-T
gnomAD v3:
8-117172544-C-T
gnomAD v4:
8-117172544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117172544C>T , CM000670.2:g.117172544C>T | GRCh38 |
| NC_000008.10:g.118184783C>T , CM000670.1:g.118184783C>T | GRCh37 |
| NC_000008.9:g.118253964C>T | NCBI36 |
| NG_016991.1:g.227272C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456015.7:c.973C>T MANE Select | ENSP00000415011.2:p.Arg325Trp | |
| ENST00000427715.2:c.826C>T | ENSP00000407505.2:p.Arg276Trp | |
| ENST00000456015.6:c.973C>T | ENSP00000415011.2:p.Arg325Trp | |
| ENST00000519688.5:c.826C>T | ENSP00000431069.1:p.Arg276Trp | |
| ENST00000521243.5:c.826C>T | ENSP00000428545.1:p.Arg276Trp | |
| NM_001172811.1:c.826C>T | NP_001166282.1:p.Arg276Trp | |
| NM_001172813.1:c.826C>T | NP_001166284.1:p.Arg276Trp | |
| NM_001172814.1:c.826C>T | NP_001166285.1:p.Arg276Trp | |
| NM_001172815.1:c.826C>T | NP_001166286.1:p.Arg276Trp | |
| NM_173851.2:c.973C>T | NP_776250.2:p.Arg325Trp | |
| XM_011516881.1:c.973C>T | XP_011515183.1:p.Arg325Trp | |
| XM_011516882.1:c.826C>T | XP_011515184.1:p.Arg276Trp | |
| XR_928569.1:n.1020+71G>A | ||
| XR_928570.1:n.1020+71G>A | ||
| NM_001172815.2:c.826C>T | NP_001166286.1:p.Arg276Trp | |
| XM_024447083.1:c.826C>T | XP_024302851.1:p.Arg276Trp | |
| XR_928569.2:n.973+71G>A | ||
| XR_928570.2:n.973+71G>A | ||
| NM_001172811.2:c.826C>T | NP_001166282.1:p.Arg276Trp | |
| NM_001172813.2:c.826C>T | NP_001166284.1:p.Arg276Trp | |
| NM_001172814.2:c.826C>T | NP_001166285.1:p.Arg276Trp | |
| NM_173851.3:c.973C>T MANE Select | NP_776250.2:p.Arg325Trp | |
| NM_001172815.3:c.826C>T | NP_001166286.1:p.Arg276Trp |