Linked Data
ClinVar Variation Id:
2727281
ClinVar RCV Id:
RCV003557150
dbSNP Id:
rs370774942
ExAC:
19:33878397 G / C
gnomAD v2:
19-33878397-G-C
gnomAD v3:
19-33387491-G-C
gnomAD v4:
19-33387491-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387491G>C , CM000681.2:g.33387491G>C | GRCh38 |
| NC_000019.9:g.33878397G>C , CM000681.1:g.33878397G>C | GRCh37 |
| NC_000019.8:g.38570237G>C | NCBI36 |
| NG_013358.1:g.139403C>G | |
| NG_013358.2:g.139403C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1411-10C>G | ENSP00000468516.4:n.1411-10C>G | |
| ENST00000651901.2:c.1435-10C>G | ENSP00000498922.2:n.1435-10C>G | |
| ENST00000698359.1:c.1300-10C>G | ENSP00000513682.1:n.1300-10C>G | |
| ENST00000698360.1:c.1396-10C>G | ENSP00000513683.1:n.1396-10C>G | |
| ENST00000698361.1:c.1461-10C>G | ENSP00000513684.1:n.1461-10C>G | |
| ENST00000698362.1:c.*472C>G | ENSP00000513685.1:n.*472C>G | |
| ENST00000698426.1:c.1024-10C>G | ENSP00000513713.1:n.1024-10C>G | |
| ENST00000698427.1:c.1387-10C>G | ENSP00000513714.1:n.1387-10C>G | |
| ENST00000698428.1:c.1024-10C>G | ENSP00000513715.1:n.1024-10C>G | |
| ENST00000698429.1:n.1228-10C>G | ||
| ENST00000698430.1:c.1595-10C>G | ||
| ENST00000698431.1:c.1082-10C>G | ENSP00000513717.1:n.1082-10C>G | |
| ENST00000698432.1:c.1154-10C>G | ||
| ENST00000698433.1:n.807-10C>G | ||
| ENST00000244137.12:c.1345-10C>G MANE Select | ENSP00000244137.5:n.1345-10C>G | |
| ENST00000588328.6:c.1400-10C>G | ||
| ENST00000651901.1:c.1431-10C>G | ||
| ENST00000244137.11:c.1345-10C>G | ENSP00000244137.5:n.1345-10C>G | |
| ENST00000397032.8:c.1222-10C>G | ENSP00000380226.3:n.1222-10C>G | |
| ENST00000436370.7:c.1153-10C>G | ENSP00000391890.2:n.1153-10C>G | |
| ENST00000589598.5:n.70-10C>G | ||
| ENST00000591968.1:n.417-10C>G | ||
| ENST00000593085.1:n.1232-10C>G | ||
| NM_000285.3:c.1345-10C>G | NP_000276.2:n.1345-10C>G | |
| NM_001166056.1:c.1222-10C>G | NP_001159528.1:n.1222-10C>G | |
| NM_001166057.1:c.1153-10C>G | NP_001159529.1:n.1153-10C>G | |
| NM_000285.4:c.1345-10C>G MANE Select | NP_000276.2:n.1345-10C>G | |
| NM_001166056.2:c.1222-10C>G | NP_001159528.1:n.1222-10C>G | |
| NM_001166057.2:c.1153-10C>G | NP_001159529.1:n.1153-10C>G |