Linked Data
dbSNP Id:
rs754452515
ExAC:
12:58158248 G / A
gnomAD v2:
12-58158248-G-A
gnomAD v4:
12-57764465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764465G>A , CM000674.2:g.57764465G>A | GRCh38 |
| NC_000012.11:g.58158248G>A , CM000674.1:g.58158248G>A | GRCh37 |
| NC_000012.10:g.56444515G>A | NCBI36 |
| NG_007076.1:g.7729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1130C>T | ENSP00000518840.1:p.Ala377Val | |
| ENST00000713545.1:c.*54C>T | ENSP00000518841.1:n.*54C>T | |
| ENST00000228606.9:c.1049C>T MANE Select | ENSP00000228606.4:p.Ala350Val | |
| ENST00000228606.8:c.1049C>T | ENSP00000228606.4:p.Ala350Val | |
| ENST00000546567.5:c.344C>T | ENSP00000449472.1:p.Ala115Val | |
| ENST00000547344.5:n.1188C>T | ||
| NM_000785.3:c.1049C>T | NP_000776.1:p.Ala350Val | |
| NM_000785.4:c.1049C>T MANE Select | NP_000776.1:p.Ala350Val |