Linked Data
ClinVar Variation Id:
328803
dbSNP Id:
rs372949783
ExAC:
19:33892617 C / T
gnomAD v2:
19-33892617-C-T
gnomAD v3:
19-33401711-C-T
gnomAD v4:
19-33401711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33401711C>T , CM000681.2:g.33401711C>T | GRCh38 |
| NC_000019.9:g.33892617C>T , CM000681.1:g.33892617C>T | GRCh37 |
| NC_000019.8:g.38584457C>T | NCBI36 |
| NG_013358.1:g.125183G>A | |
| NG_013358.2:g.125183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.967+10G>A | ENSP00000468516.4:n.967+10G>A | |
| ENST00000651901.2:c.967+10G>A | ENSP00000498922.2:n.967+10G>A | |
| ENST00000698359.1:c.922+10G>A | ENSP00000513682.1:n.922+10G>A | |
| ENST00000698360.1:c.1018+10G>A | ENSP00000513683.1:n.1018+10G>A | |
| ENST00000698361.1:c.967+10G>A | ENSP00000513684.1:n.967+10G>A | |
| ENST00000698362.1:c.967+10G>A | ENSP00000513685.1:n.967+10G>A | |
| ENST00000698363.1:n.1030+10G>A | ||
| ENST00000698364.1:n.1030+10G>A | ||
| ENST00000698365.1:n.1040G>A | ||
| ENST00000698426.1:c.646+10G>A | ENSP00000513713.1:n.646+10G>A | |
| ENST00000698427.1:c.1009+10G>A | ENSP00000513714.1:n.1009+10G>A | |
| ENST00000698428.1:c.646+10G>A | ENSP00000513715.1:n.646+10G>A | |
| ENST00000698429.1:n.850+10G>A | ||
| ENST00000698430.1:c.1217+10G>A | ||
| ENST00000698431.1:c.704+10G>A | ENSP00000513717.1:n.704+10G>A | |
| ENST00000698432.1:c.776+10G>A | ||
| ENST00000698433.1:n.429+10G>A | ||
| ENST00000698434.1:n.454+10G>A | ||
| ENST00000244137.12:c.967+10G>A MANE Select | ENSP00000244137.5:n.967+10G>A | |
| ENST00000588328.6:c.956+10G>A | ||
| ENST00000590731.6:n.642+10G>A | ||
| ENST00000651901.1:c.963+10G>A | ||
| ENST00000244137.11:c.967+10G>A | ENSP00000244137.5:n.967+10G>A | |
| ENST00000397032.8:c.844+10G>A | ENSP00000380226.3:n.844+10G>A | |
| ENST00000436370.7:c.775+10G>A | ENSP00000391890.2:n.775+10G>A | |
| ENST00000588328.5:c.458+10G>A | ||
| NM_000285.3:c.967+10G>A | NP_000276.2:n.967+10G>A | |
| NM_001166056.1:c.844+10G>A | NP_001159528.1:n.844+10G>A | |
| NM_001166057.1:c.775+10G>A | NP_001159529.1:n.775+10G>A | |
| NM_000285.4:c.967+10G>A MANE Select | NP_000276.2:n.967+10G>A | |
| NM_001166056.2:c.844+10G>A | NP_001159528.1:n.844+10G>A | |
| NM_001166057.2:c.775+10G>A | NP_001159529.1:n.775+10G>A |