Linked Data
ClinVar Variation Id:
309949
dbSNP Id:
rs746095110
ExAC:
12:57975323 G / A
gnomAD v2:
12-57975323-G-A
gnomAD v3:
12-57581540-G-A
gnomAD v4:
12-57581540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581540G>A , CM000674.2:g.57581540G>A | GRCh38 |
| NC_000012.11:g.57975323G>A , CM000674.1:g.57975323G>A | GRCh37 |
| NC_000012.10:g.56261590G>A | NCBI36 |
| NG_008155.1:g.36477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2881G>A MANE Select | ENSP00000408979.2:p.Ala961Thr | |
| ENST00000674619.1:c.2902G>A | ENSP00000502270.1:p.Ala968Thr | |
| ENST00000674776.1:c.389G>A | ENSP00000502434.1:n.389G>A | |
| ENST00000675634.1:c.376G>A | ENSP00000502231.1:p.Ala126Thr | |
| ENST00000675737.1:n.285G>A | ||
| ENST00000675882.1:n.2103G>A | ||
| ENST00000675929.1:n.1439G>A | ||
| ENST00000676457.1:c.2776G>A | ENSP00000501588.1:p.Ala926Thr | |
| ENST00000286452.5:c.2614G>A | ENSP00000286452.5:p.Ala872Thr | |
| ENST00000455537.6:c.2881G>A | ENSP00000408979.2:p.Ala961Thr | |
| NM_004984.2:c.2881G>A | NP_004975.2:p.Ala961Thr | |
| NM_001354705.1:c.2614G>A | NP_001341634.1:p.Ala872Thr | |
| NM_004984.3:c.2881G>A | NP_004975.2:p.Ala961Thr | |
| XR_002957324.1:n.3114G>A | ||
| NM_004984.4:c.2881G>A MANE Select | NP_004975.2:p.Ala961Thr | |
| NM_001354705.2:c.2614G>A | NP_001341634.1:p.Ala872Thr |