Linked Data
dbSNP Id:
rs573018767
gnomAD v2:
10-13325376-G-A
gnomAD v3:
10-13283376-G-A
gnomAD v4:
10-13283376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283376G>A , CM000672.2:g.13283376G>A | GRCh38 |
| NC_000010.10:g.13325376G>A , CM000672.1:g.13325376G>A | GRCh37 |
| NC_000010.9:g.13365382G>A | NCBI36 |
| NG_012862.1:g.21755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.828+314C>T MANE Select | ENSP00000263038.4:n.828+314C>T | |
| ENST00000263038.8:c.828+314C>T | ENSP00000263038.4:n.828+314C>T | |
| ENST00000396913.6:c.528+314C>T | ENSP00000380121.2:n.528+314C>T | |
| ENST00000396920.7:c.777+314C>T | ENSP00000380126.3:n.777+314C>T | |
| NM_001037537.1:c.528+314C>T | NP_001032626.1:n.528+314C>T | |
| NM_006214.3:c.828+314C>T | NP_006205.1:n.828+314C>T | |
| XM_005252469.2:c.609+314C>T | XP_005252526.1:n.609+314C>T | |
| NM_001323080.1:c.528+314C>T | NP_001310009.1:n.528+314C>T | |
| NM_001323082.1:c.834+314C>T | NP_001310011.1:n.834+314C>T | |
| NM_001323083.1:c.564+314C>T | NP_001310012.1:n.564+314C>T | |
| NM_001323084.1:c.534+314C>T | NP_001310013.1:n.534+314C>T | |
| NM_006214.4:c.828+314C>T MANE Select | NP_006205.1:n.828+314C>T | |
| NM_001037537.2:c.528+314C>T | NP_001032626.1:n.528+314C>T | |
| NM_001323080.2:c.528+314C>T | NP_001310009.1:n.528+314C>T | |
| NM_001323082.2:c.834+314C>T | NP_001310011.1:n.834+314C>T | |
| NM_001323083.2:c.564+314C>T | NP_001310012.1:n.564+314C>T | |
| NM_001323084.2:c.534+314C>T | NP_001310013.1:n.534+314C>T |