Linked Data
ClinVar Variation Id:
1254252
ClinVar RCV Id:
RCV001653034
dbSNP Id:
rs184431150
ExAC:
17:15930919 G / A
gnomAD v2:
17-15930919-G-A
gnomAD v3:
17-16027605-G-A
gnomAD v4:
17-16027605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16027605G>A , CM000679.2:g.16027605G>A | GRCh38 |
| NC_000017.10:g.15930919G>A , CM000679.1:g.15930919G>A | GRCh37 |
| NC_000017.9:g.15871644G>A | NCBI36 |
| NG_029806.1:g.33226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*83G>A MANE Select | ENSP00000261647.5:n.*83G>A | |
| ENST00000261647.9:c.*83G>A | ENSP00000261647.5:n.*83G>A | |
| ENST00000465567.1:n.1620G>A | ||
| ENST00000470649.1:c.247+903G>A | ENSP00000465627.1:n.247+903G>A | |
| ENST00000475723.5:c.1410G>A | ||
| ENST00000481107.1:n.1894G>A | ||
| NM_001271420.1:c.*83G>A | NP_001258349.1:n.*83G>A | |
| NM_017775.3:c.*83G>A | NP_060245.3:n.*83G>A | |
| XM_017024801.2:c.994+903G>A | XP_016880290.2:n.994+903G>A | |
| XM_017024802.2:c.994+903G>A | XP_016880291.2:n.994+903G>A | |
| NM_017775.4:c.*83G>A MANE Select | NP_060245.3:n.*83G>A | |
| NM_001271420.2:c.*83G>A | NP_001258349.1:n.*83G>A |