Linked Data
dbSNP Id:
rs1392535879
gnomAD v2:
19-34012668-T-C
gnomAD v3:
19-33521762-T-C
gnomAD v4:
19-33521762-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521762T>C , CM000681.2:g.33521762T>C | GRCh38 |
| NC_000019.9:g.34012668T>C , CM000681.1:g.34012668T>C | GRCh37 |
| NC_000019.8:g.38704508T>C | NCBI36 |
| NG_013358.1:g.5132A>G | |
| NG_013358.2:g.5132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.-2A>G | ENSP00000468516.4:n.-2A>G | |
| ENST00000651901.2:c.-2A>G | ENSP00000498922.2:n.-2A>G | |
| ENST00000698359.1:c.-2A>G | ENSP00000513682.1:n.-2A>G | |
| ENST00000698360.1:c.-2A>G | ENSP00000513683.1:n.-2A>G | |
| ENST00000698361.1:c.-2A>G | ENSP00000513684.1:n.-2A>G | |
| ENST00000698362.1:c.-2A>G | ENSP00000513685.1:n.-2A>G | |
| ENST00000698363.1:n.62A>G | ||
| ENST00000698364.1:n.62A>G | ||
| ENST00000698365.1:n.62A>G | ||
| ENST00000698426.1:c.-517A>G | ENSP00000513713.1:n.-517A>G | |
| ENST00000698427.1:c.-67A>G | ENSP00000513714.1:n.-67A>G | |
| ENST00000698428.1:c.-395A>G | ENSP00000513715.1:n.-395A>G | |
| ENST00000698435.1:c.-2A>G | ENSP00000513719.1:n.-2A>G | |
| ENST00000698436.1:c.-2A>G | ENSP00000513720.1:n.-2A>G | |
| ENST00000244137.12:c.-2A>G MANE Select | ENSP00000244137.5:n.-2A>G | |
| ENST00000244137.11:c.-2A>G | ENSP00000244137.5:n.-2A>G | |
| ENST00000397032.8:c.-2A>G | ENSP00000380226.3:n.-2A>G | |
| ENST00000436370.7:c.-2A>G | ENSP00000391890.2:n.-2A>G | |
| NM_000285.3:c.-2A>G | NP_000276.2:n.-2A>G | |
| NM_001166056.1:c.-2A>G | NP_001159528.1:n.-2A>G | |
| NM_001166057.1:c.-2A>G | NP_001159529.1:n.-2A>G | |
| NM_000285.4:c.-2A>G MANE Select | NP_000276.2:n.-2A>G | |
| NM_001166056.2:c.-2A>G | NP_001159528.1:n.-2A>G | |
| NM_001166057.2:c.-2A>G | NP_001159529.1:n.-2A>G |