Linked Data
ClinVar Variation Id:
1523731
ClinVar RCV Id:
RCV002039099
dbSNP Id:
rs1555736597
gnomAD v2:
19-8650078-T-C
gnomAD v3:
19-8585194-T-C
gnomAD v4:
19-8585194-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8585194T>C , CM000681.2:g.8585194T>C | GRCh38 |
| NC_000019.9:g.8650078T>C , CM000681.1:g.8650078T>C | GRCh37 |
| NC_000019.8:g.8556078T>C | NCBI36 |
| NG_011840.2:g.30509A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.2980A>G MANE Select | ENSP00000471851.1:p.Thr994Ala | |
| ENST00000270328.8:c.2980A>G | ENSP00000270328.4:p.Thr994Ala | |
| ENST00000593913.5:c.*1857A>G | ENSP00000469901.1:n.*1857A>G | |
| ENST00000595838.5:c.1441A>G | ENSP00000470501.1:p.Thr481Ala | |
| ENST00000596851.5:c.*2262A>G | ENSP00000469559.1:n.*2262A>G | |
| ENST00000597188.5:c.2980A>G | ENSP00000471851.1:p.Thr994Ala | |
| NM_001282352.1:c.1441A>G | NP_001269281.1:p.Thr481Ala | |
| NM_030957.3:c.2980A>G | NP_112219.3:p.Thr994Ala | |
| XM_006722917.2:c.2023A>G | XP_006722980.1:p.Thr675Ala | |
| XM_011528331.1:c.3127A>G | XP_011526633.1:p.Thr1043Ala | |
| XM_011528332.1:c.3127A>G | XP_011526634.1:p.Thr1043Ala | |
| XM_011528333.1:c.3127A>G | XP_011526635.1:p.Thr1043Ala | |
| XM_011528334.1:c.2866-140A>G | XP_011526636.1:n.2866-140A>G | |
| XM_011528335.1:c.1696A>G | XP_011526637.1:p.Thr566Ala | |
| XM_011528336.1:c.1690A>G | XP_011526638.1:p.Thr564Ala | |
| XM_006722917.3:c.2023A>G | XP_006722980.1:p.Thr675Ala | |
| XM_017027338.2:c.2980A>G | XP_016882827.1:p.Thr994Ala | |
| XM_017027339.1:c.1549A>G | XP_016882828.1:p.Thr517Ala | |
| XM_017027340.1:c.1543A>G | XP_016882829.1:p.Thr515Ala | |
| NM_030957.4:c.2980A>G MANE Select | NP_112219.3:p.Thr994Ala | |
| NM_001282352.2:c.1441A>G | NP_001269281.1:p.Thr481Ala |