gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028881 (AMR)
Genomes Max Group AF
0.0000887 (AMR)
Exomes Max Group AF
0.00031414 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39228547A>G , CM000666.2:g.39228547A>G | GRCh38 |
| NC_000004.11:g.39230167A>G , CM000666.1:g.39230167A>G | GRCh37 |
| NC_000004.10:g.38906562A>G | NCBI36 |
| NG_031813.1:g.51144A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.1839A>G MANE Select | ENSP00000382717.3:p.Leu613= | |
| ENST00000399820.7:c.1839A>G | ENSP00000382717.3:p.Leu613= | |
| ENST00000506869.5:c.*1420A>G | ENSP00000424319.1:n.*1420A>G | |
| ENST00000507228.1:c.17A>G | ||
| ENST00000511729.5:n.41-11A>G | ||
| ENST00000512095.5:n.837A>G | ||
| NM_025132.3:c.1839A>G | NP_079408.3:p.Leu613= | |
| XM_011513724.1:c.1839A>G | XP_011512026.1:p.Leu613= | |
| XM_011513725.1:c.1773A>G | XP_011512027.1:p.Leu591= | |
| XM_011513726.1:c.1359A>G | XP_011512028.1:p.Leu453= | |
| XM_011513727.1:c.1359A>G | XP_011512029.1:p.Leu453= | |
| XM_011513728.1:c.1359A>G | XP_011512030.1:p.Leu453= | |
| XM_011513729.1:c.1839A>G | XP_011512031.1:p.Leu613= | |
| XR_925155.1:n.1903A>G | ||
| NM_001317924.1:c.1359A>G | NP_001304853.1:p.Leu453= | |
| XM_011513725.2:c.1773A>G | XP_011512027.1:p.Leu591= | |
| XM_011513726.3:c.1359A>G | XP_011512028.1:p.Leu453= | |
| XM_017008501.1:c.1359A>G | XP_016863990.1:p.Leu453= | |
| XR_001741306.1:n.1903A>G | ||
| XR_001741307.1:n.1903A>G | ||
| XR_001741308.1:n.1903A>G | ||
| XR_001741309.1:n.1903A>G | ||
| XR_001741310.1:n.1903A>G | ||
| XR_001741311.2:n.1752A>G | ||
| XR_001741312.1:n.1903A>G | ||
| NM_025132.4:c.1839A>G MANE Select | NP_079408.3:p.Leu613= | |
| NM_001317924.2:c.1359A>G | NP_001304853.1:p.Leu453= |