Linked Data
dbSNP Id:
rs478597
gnomAD v2:
12-117751425-G-A
gnomAD v3:
12-117313620-G-A
gnomAD v4:
12-117313620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117313620G>A , CM000674.2:g.117313620G>A | GRCh38 |
| NC_000012.11:g.117751425G>A , CM000674.1:g.117751425G>A | GRCh37 |
| NC_000012.10:g.116235808G>A | NCBI36 |
| NG_011991.2:g.53158C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317775.11:c.726-2028C>T MANE Select | ENSP00000320758.6:n.726-2028C>T | |
| ENST00000317775.10:c.726-2028C>T | ENSP00000320758.6:n.726-2028C>T | |
| ENST00000338101.8:c.726-2028C>T | ENSP00000337459.4:n.726-2028C>T | |
| ENST00000344089.4:c.723-2028C>T | ENSP00000339862.4:n.723-2028C>T | |
| ENST00000618760.4:c.726-2028C>T | ENSP00000477999.1:n.726-2028C>T | |
| NM_000620.4:c.726-2028C>T | NP_000611.1:n.726-2028C>T | |
| NM_001204218.1:c.726-2028C>T | NP_001191147.1:n.726-2028C>T | |
| XM_011538398.1:c.726-2028C>T | XP_011536700.1:n.726-2028C>T | |
| NM_000620.5:c.726-2028C>T MANE Select | NP_000611.1:n.726-2028C>T | |
| NM_001204218.2:c.726-2028C>T | NP_001191147.1:n.726-2028C>T |