Linked Data
ClinVar Variation Id:
2080122
ClinVar RCV Id:
RCV002983026
dbSNP Id:
rs958027919
gnomAD v2:
12-58159902-C-T
gnomAD v3:
12-57766119-C-T
gnomAD v4:
12-57766119-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766119C>T , CM000674.2:g.57766119C>T | GRCh38 |
| NC_000012.11:g.58159902C>T , CM000674.1:g.58159902C>T | GRCh37 |
| NC_000012.10:g.56446169C>T | NCBI36 |
| NG_007076.1:g.6075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.186G>A | ||
| ENST00000713544.1:c.274G>A | ENSP00000518840.1:p.Ala92Thr | |
| ENST00000713545.1:c.274G>A | ENSP00000518841.1:p.Ala92Thr | |
| ENST00000228606.9:c.274G>A MANE Select | ENSP00000228606.4:p.Ala92Thr | |
| ENST00000228606.8:c.274G>A | ENSP00000228606.4:p.Ala92Thr | |
| ENST00000546496.1:n.102G>A | ||
| ENST00000546609.1:c.186G>A | ||
| ENST00000547344.5:n.328G>A | ||
| ENST00000552186.1:n.393G>A | ||
| NM_000785.3:c.274G>A | NP_000776.1:p.Ala92Thr | |
| NM_000785.4:c.274G>A MANE Select | NP_000776.1:p.Ala92Thr |