Linked Data
ClinVar Variation Id:
542307
dbSNP Id:
rs117788141
ExAC:
13:111357899 C / T
gnomAD v2:
13-111357899-C-T
gnomAD v3:
13-110705552-C-T
gnomAD v4:
13-110705552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110705552C>T , CM000675.2:g.110705552C>T | GRCh38 |
| NC_000013.10:g.111357899C>T , CM000675.1:g.111357899C>T | GRCh37 |
| NC_000013.9:g.110155900C>T | NCBI36 |
| NG_042045.1:g.5629G>A | |
| NG_042045.2:g.13050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257347.9:c.244G>A MANE Select | ENSP00000257347.4:p.Val82Ile | |
| ENST00000257347.8:c.244G>A | ENSP00000257347.4:p.Val82Ile | |
| ENST00000465145.5:n.119G>A | ||
| ENST00000485188.1:n.725G>A | ||
| ENST00000535398.5:n.468-3997G>A | ||
| ENST00000537394.5:c.244G>A | ENSP00000437962.1:p.Val82Ile | |
| ENST00000537412.5:n.485G>A | ||
| ENST00000539269.5:c.204G>A | ||
| ENST00000540629.5:n.275G>A | ||
| ENST00000540785.1:n.65G>A | ||
| ENST00000541443.5:n.155G>A | ||
| ENST00000542126.5:n.240G>A | ||
| ENST00000542709.5:c.217G>A | ENSP00000444655.1:p.Val73Ile | |
| ENST00000544488.5:n.386+7585G>A | ||
| NM_024537.2:c.244G>A | NP_078813.1:p.Val82Ile | |
| NM_024537.3:c.244G>A | NP_078813.1:p.Val82Ile | |
| XM_006719953.2:c.-96G>A | XP_006720016.1:n.-96G>A | |
| XM_011521114.1:c.244G>A | XP_011519416.1:p.Val82Ile | |
| XM_011521115.1:c.-96G>A | XP_011519417.1:n.-96G>A | |
| XM_011521116.1:c.-152G>A | XP_011519418.1:n.-152G>A | |
| XM_011521117.1:c.244G>A | XP_011519419.1:p.Val82Ile | |
| XM_011521118.1:c.244G>A | XP_011519420.1:p.Val82Ile | |
| XM_011521119.1:c.244G>A | XP_011519421.1:p.Val82Ile | |
| XM_011521120.1:c.-365G>A | XP_011519422.1:n.-365G>A | |
| XR_243047.2:n.267G>A | ||
| XR_243048.3:n.267G>A | ||
| XR_243049.3:n.267G>A | ||
| XR_243051.2:n.267G>A | ||
| NM_001352252.1:c.-756G>A | NP_001339181.1:n.-756G>A | |
| NM_001352253.1:c.244G>A | NP_001339182.1:p.Val82Ile | |
| NR_147941.1:n.165G>A | ||
| NR_147942.1:n.331G>A | ||
| XM_006719953.3:c.-96G>A | XP_006720016.1:n.-96G>A | |
| XM_011521117.3:c.244G>A | XP_011519419.1:p.Val82Ile | |
| XM_011521118.3:c.244G>A | XP_011519420.1:p.Val82Ile | |
| XM_017020741.1:c.-64-3997G>A | XP_016876230.1:n.-64-3997G>A | |
| XM_017020742.2:c.244G>A | XP_016876231.1:p.Val82Ile | |
| XM_024449409.1:c.-365G>A | XP_024305177.1:n.-365G>A | |
| XR_001749664.2:n.284G>A | ||
| XR_001749665.2:n.284G>A | ||
| XR_001749666.2:n.284G>A | ||
| XR_001749667.2:n.284G>A | ||
| XR_001749668.2:n.284G>A | ||
| XR_002957472.1:n.284G>A | ||
| XR_243047.3:n.284G>A | ||
| XR_243048.4:n.284G>A | ||
| XR_243049.4:n.284G>A | ||
| XR_243051.3:n.284G>A | ||
| NM_024537.4:c.244G>A MANE Select | NP_078813.1:p.Val82Ile | |
| NM_001352253.2:c.244G>A | NP_001339182.1:p.Val82Ile | |
| NR_147942.2:n.267G>A | ||
| NM_001352252.2:c.-756G>A | NP_001339181.1:n.-756G>A | |
| NM_001352253.3:c.244G>A | NP_001339182.1:p.Val82Ile |