Linked Data
dbSNP Id:
rs1008941838
gnomAD v2:
19-33878494-C-G
gnomAD v3:
19-33387588-C-G
gnomAD v4:
19-33387588-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387588C>G , CM000681.2:g.33387588C>G | GRCh38 |
| NC_000019.9:g.33878494C>G , CM000681.1:g.33878494C>G | GRCh37 |
| NC_000019.8:g.38570334C>G | NCBI36 |
| NG_013358.1:g.139306G>C | |
| NG_013358.2:g.139306G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1411-107G>C | ENSP00000468516.4:n.1411-107G>C | |
| ENST00000651901.2:c.1434+67G>C | ENSP00000498922.2:n.1434+67G>C | |
| ENST00000698359.1:c.1300-107G>C | ENSP00000513682.1:n.1300-107G>C | |
| ENST00000698360.1:c.1396-107G>C | ENSP00000513683.1:n.1396-107G>C | |
| ENST00000698361.1:c.1461-107G>C | ENSP00000513684.1:n.1461-107G>C | |
| ENST00000698362.1:c.*375G>C | ENSP00000513685.1:n.*375G>C | |
| ENST00000698426.1:c.1024-107G>C | ENSP00000513713.1:n.1024-107G>C | |
| ENST00000698427.1:c.1387-107G>C | ENSP00000513714.1:n.1387-107G>C | |
| ENST00000698428.1:c.1024-107G>C | ENSP00000513715.1:n.1024-107G>C | |
| ENST00000698429.1:n.1228-107G>C | ||
| ENST00000698430.1:c.1595-107G>C | ||
| ENST00000698431.1:c.1082-107G>C | ENSP00000513717.1:n.1082-107G>C | |
| ENST00000698432.1:c.1154-107G>C | ||
| ENST00000698433.1:n.807-107G>C | ||
| ENST00000244137.12:c.1345-107G>C MANE Select | ENSP00000244137.5:n.1345-107G>C | |
| ENST00000588328.6:c.1400-107G>C | ||
| ENST00000651901.1:c.1430+67G>C | ||
| ENST00000244137.11:c.1345-107G>C | ENSP00000244137.5:n.1345-107G>C | |
| ENST00000397032.8:c.1222-107G>C | ENSP00000380226.3:n.1222-107G>C | |
| ENST00000436370.7:c.1153-107G>C | ENSP00000391890.2:n.1153-107G>C | |
| ENST00000589598.5:n.69+67G>C | ||
| ENST00000591968.1:n.417-107G>C | ||
| ENST00000593085.1:n.1232-107G>C | ||
| NM_000285.3:c.1345-107G>C | NP_000276.2:n.1345-107G>C | |
| NM_001166056.1:c.1222-107G>C | NP_001159528.1:n.1222-107G>C | |
| NM_001166057.1:c.1153-107G>C | NP_001159529.1:n.1153-107G>C | |
| NM_000285.4:c.1345-107G>C MANE Select | NP_000276.2:n.1345-107G>C | |
| NM_001166056.2:c.1222-107G>C | NP_001159528.1:n.1222-107G>C | |
| NM_001166057.2:c.1153-107G>C | NP_001159529.1:n.1153-107G>C |