Linked Data
dbSNP Id:
rs766978137
ExAC:
19:51411786 T / A
gnomAD v2:
19-51411786-T-A
gnomAD v3:
19-50908530-T-A
gnomAD v4:
19-50908530-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908530T>A , CM000681.2:g.50908530T>A | GRCh38 |
| NC_000019.9:g.51411786T>A , CM000681.1:g.51411786T>A | GRCh37 |
| NC_000019.8:g.56103598T>A | NCBI36 |
| NG_012154.2:g.7209A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.476-35A>T MANE Select | ENSP00000326159.1:n.476-35A>T | |
| ENST00000324041.5:c.476-35A>T | ENSP00000326159.1:n.476-35A>T | |
| ENST00000431178.2:c.328+49A>T | ENSP00000399448.2:n.328+49A>T | |
| ENST00000593885.1:c.191-39A>T | ENSP00000469769.1:n.191-39A>T | |
| ENST00000596876.1:n.443A>T | ||
| ENST00000598305.5:c.191-39A>T | ENSP00000469963.1:n.191-39A>T | |
| ENST00000599865.5:n.377A>T | ||
| ENST00000602148.1:c.488-35A>T | ENSP00000472091.1:n.488-35A>T | |
| NM_001302961.1:c.191-35A>T | NP_001289890.1:n.191-35A>T | |
| NM_004917.4:c.476-35A>T | NP_004908.4:n.476-35A>T | |
| NR_126566.1:n.469-39A>T | ||
| XM_005259441.3:c.191-35A>T | XP_005259498.2:n.191-35A>T | |
| XM_011527545.1:c.476-39A>T | XP_011525847.1:n.476-39A>T | |
| XM_011527546.1:c.475+49A>T | XP_011525848.1:n.475+49A>T | |
| XM_011527547.1:c.329-35A>T | XP_011525849.1:n.329-35A>T | |
| XM_005259441.4:c.191-35A>T | XP_005259498.2:n.191-35A>T | |
| XM_011527545.3:c.476-39A>T | XP_011525847.1:n.476-39A>T | |
| XM_011527546.2:c.475+49A>T | XP_011525848.1:n.475+49A>T | |
| NM_001302961.2:c.191-35A>T | NP_001289890.1:n.191-35A>T | |
| NR_126566.2:n.469-39A>T | ||
| NM_004917.5:c.476-35A>T MANE Select | NP_004908.4:n.476-35A>T |