Linked Data
ClinVar Variation Id:
328813
dbSNP Id:
rs538519269
ExAC:
19:33954878 C / T
gnomAD v2:
19-33954878-C-T
gnomAD v3:
19-33463972-C-T
gnomAD v4:
19-33463972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33463972C>T , CM000681.2:g.33463972C>T | GRCh38 |
| NC_000019.9:g.33954878C>T , CM000681.1:g.33954878C>T | GRCh37 |
| NC_000019.8:g.38646718C>T | NCBI36 |
| NG_013358.1:g.62922G>A | |
| NG_013358.2:g.62922G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.624+15G>A | ENSP00000468516.4:n.624+15G>A | |
| ENST00000651646.2:c.624+15G>A | ENSP00000498950.2:n.624+15G>A | |
| ENST00000651901.2:c.624+15G>A | ENSP00000498922.2:n.624+15G>A | |
| ENST00000698359.1:c.579+15G>A | ENSP00000513682.1:n.579+15G>A | |
| ENST00000698360.1:c.624+15G>A | ENSP00000513683.1:n.624+15G>A | |
| ENST00000698361.1:c.624+15G>A | ENSP00000513684.1:n.624+15G>A | |
| ENST00000698362.1:c.624+15G>A | ENSP00000513685.1:n.624+15G>A | |
| ENST00000698363.1:n.687+15G>A | ||
| ENST00000698364.1:n.687+15G>A | ||
| ENST00000698365.1:n.687+15G>A | ||
| ENST00000698426.1:c.303+15G>A | ENSP00000513713.1:n.303+15G>A | |
| ENST00000698427.1:c.666+15G>A | ENSP00000513714.1:n.666+15G>A | |
| ENST00000698428.1:c.303+15G>A | ENSP00000513715.1:n.303+15G>A | |
| ENST00000698430.1:c.874+15G>A | ||
| ENST00000698431.1:c.361+15G>A | ENSP00000513717.1:n.361+15G>A | |
| ENST00000698432.1:c.433+15G>A | ||
| ENST00000698435.1:c.312+15G>A | ENSP00000513719.1:n.312+15G>A | |
| ENST00000698436.1:c.*236+15G>A | ENSP00000513720.1:n.*236+15G>A | |
| ENST00000698437.1:n.607+15G>A | ||
| ENST00000698438.1:n.606+15G>A | ||
| ENST00000698439.1:c.481+15G>A | ENSP00000513721.1:n.481+15G>A | |
| ENST00000244137.12:c.624+15G>A MANE Select | ENSP00000244137.5:n.624+15G>A | |
| ENST00000588328.6:c.613+15G>A | ||
| ENST00000590731.6:n.299+15G>A | ||
| ENST00000651646.1:c.622+15G>A | ||
| ENST00000651901.1:c.620+15G>A | ||
| ENST00000244137.11:c.624+15G>A | ENSP00000244137.5:n.624+15G>A | |
| ENST00000397032.8:c.548+14074G>A | ENSP00000380226.3:n.548+14074G>A | |
| ENST00000436370.7:c.432+15G>A | ENSP00000391890.2:n.432+15G>A | |
| ENST00000588328.5:c.115+15G>A | ||
| ENST00000588719.5:n.259+15G>A | ||
| ENST00000590408.1:c.342+15G>A | ||
| ENST00000590731.5:n.299+15G>A | ||
| ENST00000590755.6:c.451+15G>A | ENSP00000476667.1:n.451+15G>A | |
| ENST00000593163.5:n.789+15G>A | ||
| ENST00000609145.5:c.57+15G>A | ENSP00000476514.1:n.57+15G>A | |
| NM_000285.3:c.624+15G>A | NP_000276.2:n.624+15G>A | |
| NM_001166056.1:c.548+14074G>A | NP_001159528.1:n.548+14074G>A | |
| NM_001166057.1:c.432+15G>A | NP_001159529.1:n.432+15G>A | |
| NM_000285.4:c.624+15G>A MANE Select | NP_000276.2:n.624+15G>A | |
| NM_001166056.2:c.548+14074G>A | NP_001159528.1:n.548+14074G>A | |
| NM_001166057.2:c.432+15G>A | NP_001159529.1:n.432+15G>A |