Linked Data
dbSNP Id:
rs1442728120
gnomAD v2:
12-58159907-G-A
gnomAD v3:
12-57766124-G-A
gnomAD v4:
12-57766124-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766124G>A , CM000674.2:g.57766124G>A | GRCh38 |
| NC_000012.11:g.58159907G>A , CM000674.1:g.58159907G>A | GRCh37 |
| NC_000012.10:g.56446174G>A | NCBI36 |
| NG_007076.1:g.6070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.181C>T | ||
| ENST00000713544.1:c.269C>T | ENSP00000518840.1:p.Ala90Val | |
| ENST00000713545.1:c.269C>T | ENSP00000518841.1:p.Ala90Val | |
| ENST00000228606.9:c.269C>T MANE Select | ENSP00000228606.4:p.Ala90Val | |
| ENST00000228606.8:c.269C>T | ENSP00000228606.4:p.Ala90Val | |
| ENST00000546496.1:n.97C>T | ||
| ENST00000546609.1:c.181C>T | ||
| ENST00000547344.5:n.323C>T | ||
| ENST00000552186.1:n.388C>T | ||
| NM_000785.3:c.269C>T | NP_000776.1:p.Ala90Val | |
| NM_000785.4:c.269C>T MANE Select | NP_000776.1:p.Ala90Val |