Linked Data
dbSNP Id:
rs1182872192
gnomAD v2:
12-58159910-G-A
gnomAD v3:
12-57766127-G-A
gnomAD v4:
12-57766127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766127G>A , CM000674.2:g.57766127G>A | GRCh38 |
| NC_000012.11:g.58159910G>A , CM000674.1:g.58159910G>A | GRCh37 |
| NC_000012.10:g.56446177G>A | NCBI36 |
| NG_007076.1:g.6067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.178C>T | ||
| ENST00000713544.1:c.266C>T | ENSP00000518840.1:p.Ala89Val | |
| ENST00000713545.1:c.266C>T | ENSP00000518841.1:p.Ala89Val | |
| ENST00000228606.9:c.266C>T MANE Select | ENSP00000228606.4:p.Ala89Val | |
| ENST00000228606.8:c.266C>T | ENSP00000228606.4:p.Ala89Val | |
| ENST00000546496.1:n.94C>T | ||
| ENST00000546609.1:c.178C>T | ||
| ENST00000547344.5:n.320C>T | ||
| ENST00000552186.1:n.385C>T | ||
| NM_000785.3:c.266C>T | NP_000776.1:p.Ala89Val | |
| NM_000785.4:c.266C>T MANE Select | NP_000776.1:p.Ala89Val |