Linked Data
ClinVar Variation Id:
328806
dbSNP Id:
rs370100218
ExAC:
19:33892779 C / T
gnomAD v2:
19-33892779-C-T
gnomAD v3:
19-33401873-C-T
gnomAD v4:
19-33401873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401873C>T , CM000681.2:g.33401873C>T | GRCh38 |
| NC_000019.9:g.33892779C>T , CM000681.1:g.33892779C>T | GRCh37 |
| NC_000019.8:g.38584619C>T | NCBI36 |
| NG_013358.1:g.125021G>A | |
| NG_013358.2:g.125021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.819-4G>A | ENSP00000468516.4:n.819-4G>A | |
| ENST00000651901.2:c.819-4G>A | ENSP00000498922.2:n.819-4G>A | |
| ENST00000698359.1:c.774-4G>A | ENSP00000513682.1:n.774-4G>A | |
| ENST00000698360.1:c.870-4G>A | ENSP00000513683.1:n.870-4G>A | |
| ENST00000698361.1:c.819-4G>A | ENSP00000513684.1:n.819-4G>A | |
| ENST00000698362.1:c.819-4G>A | ENSP00000513685.1:n.819-4G>A | |
| ENST00000698363.1:n.882-4G>A | ||
| ENST00000698364.1:n.882-4G>A | ||
| ENST00000698365.1:n.882-4G>A | ||
| ENST00000698426.1:c.498-4G>A | ENSP00000513713.1:n.498-4G>A | |
| ENST00000698427.1:c.861-4G>A | ENSP00000513714.1:n.861-4G>A | |
| ENST00000698428.1:c.498-4G>A | ENSP00000513715.1:n.498-4G>A | |
| ENST00000698429.1:n.702-4G>A | ||
| ENST00000698430.1:c.1069-4G>A | ||
| ENST00000698431.1:c.556-4G>A | ENSP00000513717.1:n.556-4G>A | |
| ENST00000698432.1:c.628-4G>A | ||
| ENST00000698433.1:n.281-4G>A | ||
| ENST00000698434.1:n.306-4G>A | ||
| ENST00000698435.1:c.507-4G>A | ENSP00000513719.1:n.507-4G>A | |
| ENST00000244137.12:c.819-4G>A MANE Select | ENSP00000244137.5:n.819-4G>A | |
| ENST00000588328.6:c.808-4G>A | ||
| ENST00000590731.6:n.494-4G>A | ||
| ENST00000651901.1:c.815-4G>A | ||
| ENST00000244137.11:c.819-4G>A | ENSP00000244137.5:n.819-4G>A | |
| ENST00000397032.8:c.696-4G>A | ENSP00000380226.3:n.696-4G>A | |
| ENST00000436370.7:c.627-4G>A | ENSP00000391890.2:n.627-4G>A | |
| ENST00000588328.5:c.310-4G>A | ||
| ENST00000588719.5:n.454-4G>A | ||
| ENST00000590731.5:n.494-4G>A | ||
| ENST00000593163.5:n.984-4G>A | ||
| ENST00000609145.5:c.252-4G>A | ENSP00000476514.1:n.252-4G>A | |
| NM_000285.3:c.819-4G>A | NP_000276.2:n.819-4G>A | |
| NM_001166056.1:c.696-4G>A | NP_001159528.1:n.696-4G>A | |
| NM_001166057.1:c.627-4G>A | NP_001159529.1:n.627-4G>A | |
| NM_000285.4:c.819-4G>A MANE Select | NP_000276.2:n.819-4G>A | |
| NM_001166056.2:c.696-4G>A | NP_001159528.1:n.696-4G>A | |
| NM_001166057.2:c.627-4G>A | NP_001159529.1:n.627-4G>A |