gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48767448A>G , CM000677.2:g.48767448A>G | GRCh38 |
| NC_000015.9:g.49059645A>G , CM000677.1:g.49059645A>G | GRCh37 |
| NC_000015.8:g.46846937A>G | NCBI36 |
| NG_027518.1:g.48699T>C | |
| NG_027518.2:g.48699T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380950.7:c.2034T>C MANE Select | ENSP00000370337.2:p.Tyr678= | |
| ENST00000325747.9:c.1755T>C | ENSP00000321000.5:p.Tyr585= | |
| ENST00000380950.6:c.2034T>C | ENSP00000370337.2:p.Tyr678= | |
| ENST00000399334.7:c.2034T>C | ENSP00000382271.3:p.Tyr678= | |
| NM_001194998.1:c.2034T>C | NP_001181927.1:p.Tyr678= | |
| NM_014985.3:c.2034T>C | NP_055800.2:p.Tyr678= | |
| XM_006720437.2:c.2034T>C | XP_006720500.1:p.Tyr678= | |
| XM_011521373.1:c.2034T>C | XP_011519675.1:p.Tyr678= | |
| XM_011521374.1:c.2034T>C | XP_011519676.1:p.Tyr678= | |
| XM_011521375.1:c.2034T>C | XP_011519677.1:p.Tyr678= | |
| XM_011521376.1:c.2034T>C | XP_011519678.1:p.Tyr678= | |
| XM_011521377.1:c.2034T>C | XP_011519679.1:p.Tyr678= | |
| XM_011521378.1:c.2034T>C | XP_011519680.1:p.Tyr678= | |
| XM_011521379.1:c.2034T>C | XP_011519681.1:p.Tyr678= | |
| XM_011521380.1:c.75T>C | XP_011519682.1:p.Tyr25= | |
| XM_011521381.1:c.69T>C | XP_011519683.1:p.Tyr23= | |
| XR_931769.1:n.2999T>C | ||
| XR_931770.1:n.2999T>C | ||
| XR_931771.1:n.2999T>C | ||
| XR_931772.1:n.2999T>C | ||
| XR_931773.1:n.2999T>C | ||
| XR_931774.1:n.2999T>C | ||
| XR_931775.1:n.2999T>C | ||
| XM_006720437.3:c.2034T>C | XP_006720500.1:p.Tyr678= | |
| XM_011521373.3:c.2034T>C | XP_011519675.1:p.Tyr678= | |
| XM_011521374.3:c.2034T>C | XP_011519676.1:p.Tyr678= | |
| XM_011521375.3:c.2034T>C | XP_011519677.1:p.Tyr678= | |
| XM_011521378.3:c.2034T>C | XP_011519680.1:p.Tyr678= | |
| XM_011521379.3:c.2034T>C | XP_011519681.1:p.Tyr678= | |
| XM_011521381.2:c.69T>C | XP_011519683.1:p.Tyr23= | |
| XM_017022015.1:c.69T>C | XP_016877504.1:p.Tyr23= | |
| XM_017022016.2:c.2034T>C | XP_016877505.1:p.Tyr678= | |
| XM_024449875.1:c.2034T>C | XP_024305643.1:p.Tyr678= | |
| XR_001751153.2:n.2985T>C | ||
| XR_931769.3:n.2985T>C | ||
| XR_931770.3:n.2985T>C | ||
| XR_931775.3:n.2985T>C | ||
| NM_001194998.2:c.2034T>C MANE Select | NP_001181927.1:p.Tyr678= | |
| NM_014985.4:c.2034T>C | NP_055800.2:p.Tyr678= |