gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14863805 (EAS)
Genomes Max Group AF
0.14863805 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.233079114C>A , CM000663.2:g.233079114C>A | GRCh38 |
| NC_000001.10:g.233214860C>A , CM000663.1:g.233214860C>A | GRCh37 |
| NC_000001.9:g.231281483C>A | NCBI36 |
| NG_050912.1:g.221622G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258229.14:c.4076+10947G>T MANE Select | ENSP00000258229.8:n.4076+10947G>T | |
| ENST00000258229.13:c.4076+10947G>T | ENSP00000258229.8:n.4076+10947G>T | |
| ENST00000462233.5:c.1140+10947G>T | ||
| ENST00000475463.6:c.1983-13453G>T | ||
| NM_014801.3:c.4076+10947G>T | NP_055616.3:n.4076+10947G>T | |
| XM_005273272.2:c.3467+10947G>T | XP_005273329.1:n.3467+10947G>T | |
| XM_006711816.2:c.4076+10947G>T | XP_006711879.1:n.4076+10947G>T | |
| XM_011544278.1:c.1988+10947G>T | XP_011542580.1:n.1988+10947G>T | |
| XM_011544279.1:c.920+10947G>T | XP_011542581.1:n.920+10947G>T | |
| XR_426918.2:n.4306+10947G>T | ||
| XR_949159.1:n.4306+10947G>T | ||
| XR_949160.1:n.4236-13453G>T | ||
| XR_949161.1:n.4068-21824G>T | ||
| XM_006711816.3:c.4076+10947G>T | XP_006711879.1:n.4076+10947G>T | |
| XM_011544278.2:c.1850+10947G>T | XP_011542580.2:n.1850+10947G>T | |
| XM_017002391.1:c.3467+10947G>T | XP_016857880.1:n.3467+10947G>T | |
| XM_017002392.1:c.638+10947G>T | XP_016857881.1:n.638+10947G>T | |
| XR_001737429.1:n.4133+10947G>T | ||
| XR_001737430.1:n.4063-13453G>T | ||
| XR_001737431.1:n.4017-13453G>T | ||
| NM_014801.4:c.4076+10947G>T MANE Select | NP_055616.3:n.4076+10947G>T |