Linked Data
dbSNP Id:
rs1312613444
gnomAD v2:
4-186066173-G-A
gnomAD v4:
4-185145019-G-A
COSMIC:
COSM3825598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145019G>A , CM000666.2:g.185145019G>A | GRCh38 |
| NC_000004.11:g.186066173G>A , CM000666.1:g.186066173G>A | GRCh37 |
| NC_000004.10:g.186303167G>A | NCBI36 |
| NG_013001.1:g.6757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.367G>A MANE Select | ENSP00000281456.5:p.Ala123Thr | |
| ENST00000281456.10:c.367G>A | ENSP00000281456.5:p.Ala123Thr | |
| ENST00000491736.1:c.367G>A | ENSP00000476711.1:p.Ala123Thr | |
| NM_001151.3:c.367G>A | NP_001142.2:p.Ala123Thr | |
| NM_001151.4:c.367G>A MANE Select | NP_001142.2:p.Ala123Thr |