Linked Data
ClinVar Variation Id:
1674258
ClinVar RCV Id:
RCV002206539
dbSNP Id:
rs752794552
ExAC:
19:34012661 C / T
gnomAD v2:
19-34012661-C-T
gnomAD v3:
19-33521755-C-T
gnomAD v4:
19-33521755-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521755C>T , CM000681.2:g.33521755C>T | GRCh38 |
| NC_000019.9:g.34012661C>T , CM000681.1:g.34012661C>T | GRCh37 |
| NC_000019.8:g.38704501C>T | NCBI36 |
| NG_013358.1:g.5139G>A | |
| NG_013358.2:g.5139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.6G>A | ENSP00000468516.4:p.Ala2= | |
| ENST00000651646.2:c.6G>A | ENSP00000498950.2:p.Ala2= | |
| ENST00000651901.2:c.6G>A | ENSP00000498922.2:p.Ala2= | |
| ENST00000698359.1:c.6G>A | ENSP00000513682.1:p.Ala2= | |
| ENST00000698360.1:c.6G>A | ENSP00000513683.1:p.Ala2= | |
| ENST00000698361.1:c.6G>A | ENSP00000513684.1:p.Ala2= | |
| ENST00000698362.1:c.6G>A | ENSP00000513685.1:p.Ala2= | |
| ENST00000698363.1:n.69G>A | ||
| ENST00000698364.1:n.69G>A | ||
| ENST00000698365.1:n.69G>A | ||
| ENST00000698426.1:c.-510G>A | ENSP00000513713.1:n.-510G>A | |
| ENST00000698427.1:c.-60G>A | ENSP00000513714.1:n.-60G>A | |
| ENST00000698428.1:c.-388G>A | ENSP00000513715.1:n.-388G>A | |
| ENST00000698435.1:c.6G>A | ENSP00000513719.1:p.Ala2= | |
| ENST00000698436.1:c.6G>A | ENSP00000513720.1:p.Ala2= | |
| ENST00000244137.12:c.6G>A MANE Select | ENSP00000244137.5:p.Ala2= | |
| ENST00000651646.1:c.4G>A | ||
| ENST00000651901.1:c.2G>A | ||
| ENST00000244137.11:c.6G>A | ENSP00000244137.5:p.Ala2= | |
| ENST00000397032.8:c.6G>A | ENSP00000380226.3:p.Ala2= | |
| ENST00000436370.7:c.6G>A | ENSP00000391890.2:p.Ala2= | |
| NM_000285.3:c.6G>A | NP_000276.2:p.Ala2= | |
| NM_001166056.1:c.6G>A | NP_001159528.1:p.Ala2= | |
| NM_001166057.1:c.6G>A | NP_001159529.1:p.Ala2= | |
| NM_000285.4:c.6G>A MANE Select | NP_000276.2:p.Ala2= | |
| NM_001166056.2:c.6G>A | NP_001159528.1:p.Ala2= | |
| NM_001166057.2:c.6G>A | NP_001159529.1:p.Ala2= |