Linked Data
ClinVar Variation Id:
3023021
ClinVar RCV Id:
RCV003882207
dbSNP Id:
rs775048548
ExAC:
19:34012638 C / A
gnomAD v2:
19-34012638-C-A
gnomAD v3:
19-33521732-C-A
gnomAD v4:
19-33521732-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521732C>A , CM000681.2:g.33521732C>A | GRCh38 |
| NC_000019.9:g.34012638C>A , CM000681.1:g.34012638C>A | GRCh37 |
| NC_000019.8:g.38704478C>A | NCBI36 |
| NG_013358.1:g.5162G>T | |
| NG_013358.2:g.5162G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.17+12G>T | ENSP00000468516.4:n.17+12G>T | |
| ENST00000651646.2:c.17+12G>T | ENSP00000498950.2:n.17+12G>T | |
| ENST00000651901.2:c.17+12G>T | ENSP00000498922.2:n.17+12G>T | |
| ENST00000698359.1:c.17+12G>T | ENSP00000513682.1:n.17+12G>T | |
| ENST00000698360.1:c.17+12G>T | ENSP00000513683.1:n.17+12G>T | |
| ENST00000698361.1:c.17+12G>T | ENSP00000513684.1:n.17+12G>T | |
| ENST00000698362.1:c.17+12G>T | ENSP00000513685.1:n.17+12G>T | |
| ENST00000698363.1:n.80+12G>T | ||
| ENST00000698364.1:n.80+12G>T | ||
| ENST00000698365.1:n.80+12G>T | ||
| ENST00000698426.1:c.-499+12G>T | ENSP00000513713.1:n.-499+12G>T | |
| ENST00000698427.1:c.-37G>T | ENSP00000513714.1:n.-37G>T | |
| ENST00000698428.1:c.-365G>T | ENSP00000513715.1:n.-365G>T | |
| ENST00000698435.1:c.17+12G>T | ENSP00000513719.1:n.17+12G>T | |
| ENST00000698436.1:c.17+12G>T | ENSP00000513720.1:n.17+12G>T | |
| ENST00000244137.12:c.17+12G>T MANE Select | ENSP00000244137.5:n.17+12G>T | |
| ENST00000588328.6:c.6+12G>T | ||
| ENST00000651646.1:c.15+12G>T | ||
| ENST00000651901.1:c.13+12G>T | ||
| ENST00000244137.11:c.17+12G>T | ENSP00000244137.5:n.17+12G>T | |
| ENST00000397032.8:c.17+12G>T | ENSP00000380226.3:n.17+12G>T | |
| ENST00000436370.7:c.17+12G>T | ENSP00000391890.2:n.17+12G>T | |
| NM_000285.3:c.17+12G>T | NP_000276.2:n.17+12G>T | |
| NM_001166056.1:c.17+12G>T | NP_001159528.1:n.17+12G>T | |
| NM_001166057.1:c.17+12G>T | NP_001159529.1:n.17+12G>T | |
| NM_000285.4:c.17+12G>T MANE Select | NP_000276.2:n.17+12G>T | |
| NM_001166056.2:c.17+12G>T | NP_001159528.1:n.17+12G>T | |
| NM_001166057.2:c.17+12G>T | NP_001159529.1:n.17+12G>T |