Linked Data
ClinVar Variation Id:
12173
dbSNP Id:
rs12530380
gnomAD v2:
6-32007587-T-A
gnomAD v3:
6-32039810-T-A
gnomAD v4:
6-32039810-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039810T>A , CM000668.2:g.32039810T>A | GRCh38 |
| NC_000006.11:g.32007587T>A , CM000668.1:g.32007587T>A | GRCh37 |
| NC_000006.10:g.32115566T>A | NCBI36 |
| NG_007941.2:g.6503T>A | |
| NG_008337.2:g.74565A>T | |
| NG_007941.3:g.6506T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.713T>A MANE Select | ENSP00000496625.1:p.Val238Glu | |
| ENST00000418967.6:c.713T>A | ENSP00000408860.2:p.Val238Glu | |
| ENST00000435122.3:c.623T>A | ENSP00000415043.2:p.Val208Glu | |
| ENST00000462278.1:n.402T>A | ||
| ENST00000466779.5:c.*405T>A | ENSP00000417321.1:n.*405T>A | |
| ENST00000466879.5:n.764T>A | ||
| ENST00000479074.5:n.771T>A | ||
| ENST00000479730.5:n.829T>A | ||
| ENST00000483041.5:n.882T>A | ||
| ENST00000486063.5:n.893T>A | ||
| NM_000500.7:c.713T>A | NP_000491.4:p.Val238Glu | |
| NM_001128590.3:c.623T>A | NP_001122062.3:p.Val208Glu | |
| XM_011514314.1:c.308T>A | XP_011512616.1:p.Val103Glu | |
| NM_000500.9:c.713T>A MANE Select | NP_000491.4:p.Val238Glu | |
| NM_001368143.1:c.308T>A | NP_001355072.1:p.Val103Glu | |
| NM_001368144.1:c.308T>A | NP_001355073.1:p.Val103Glu | |
| NM_001128590.4:c.623T>A | NP_001122062.3:p.Val208Glu | |
| NM_001368143.2:c.308T>A | NP_001355072.1:p.Val103Glu | |
| NM_001368144.2:c.308T>A | NP_001355073.1:p.Val103Glu |