Linked Data
ClinVar Variation Id:
2558143
ClinVar RCV Id:
RCV004329401
dbSNP Id:
rs769868355
ExAC:
4:57164402 A / G
gnomAD v2:
4-57164402-A-G
gnomAD v4:
4-56298236-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56298236A>G , CM000666.2:g.56298236A>G | GRCh38 |
| NC_000004.11:g.57164402A>G , CM000666.1:g.57164402A>G | GRCh37 |
| NC_000004.10:g.56859159A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646253.2:c.262A>G | ENSP00000495373.2:p.Thr88Ala | |
| ENST00000629263.3:c.7A>G | ENSP00000486652.1:p.Thr3Ala | |
| ENST00000682029.1:c.7A>G MANE Select | ENSP00000507165.1:p.Thr3Ala | |
| ENST00000264229.11:c.7A>G | ENSP00000264229.6:p.Thr3Ala | |
| ENST00000504228.6:c.7A>G | ENSP00000423366.1:p.Thr3Ala | |
| ENST00000636006.1:c.7A>G | ENSP00000490902.1:p.Thr3Ala | |
| ENST00000646253.1:c.262A>G | ENSP00000495373.1:p.Thr88Ala | |
| ENST00000264229.10:c.7A>G | ENSP00000264229.6:p.Thr3Ala | |
| ENST00000503618.1:n.405A>G | ||
| ENST00000504228.5:c.7A>G | ENSP00000423366.1:p.Thr3Ala | |
| ENST00000541073.5:c.-37A>G | ENSP00000444006.1:n.-37A>G | |
| ENST00000629263.2:c.7A>G | ENSP00000486652.1:p.Thr3Ala | |
| NM_020722.1:c.7A>G | NP_065773.1:p.Thr3Ala | |
| XM_005265752.2:c.7A>G | XP_005265809.1:p.Thr3Ala | |
| XM_011534395.1:c.81A>G | XP_011532697.1:p.Glu27= | |
| XM_011534396.1:c.85A>G | XP_011532698.1:p.Thr29Ala | |
| XM_011534397.1:c.7A>G | XP_011532699.1:p.Thr3Ala | |
| XM_011534398.1:c.-16A>G | XP_011532700.1:n.-16A>G | |
| XM_011534399.1:c.-54-9299A>G | XP_011532701.1:n.-54-9299A>G | |
| XM_011534397.3:c.7A>G | XP_011532699.1:p.Thr3Ala | |
| XM_017008473.1:c.-16A>G | XP_016863962.1:n.-16A>G | |
| XM_017008474.1:c.-54-9299A>G | XP_016863963.1:n.-54-9299A>G | |
| XM_024454158.1:c.7A>G | XP_024309926.1:p.Thr3Ala | |
| XM_024454159.1:c.7A>G | XP_024309927.1:p.Thr3Ala | |
| NM_001393381.1:c.7A>G MANE Select | NP_001380310.1:p.Thr3Ala | |
| NM_001393382.1:c.7A>G | NP_001380311.1:p.Thr3Ala | |
| NM_001393383.1:c.-54-9299A>G | NP_001380312.1:n.-54-9299A>G | |
| NM_001393384.1:c.-54-9299A>G | NP_001380313.1:n.-54-9299A>G | |
| NM_001393385.1:c.-54-9299A>G | NP_001380314.1:n.-54-9299A>G | |
| NM_020722.2:c.7A>G | NP_065773.1:p.Thr3Ala |