gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004385 (AFR)
Genomes Max Group AF
0.00001924 (AFR)
Exomes Max Group AF
0.00004093 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197086966G>A , CM000663.2:g.197086966G>A | GRCh38 |
| NC_000001.10:g.197056096G>A , CM000663.1:g.197056096G>A | GRCh37 |
| NC_000001.9:g.195322719G>A | NCBI36 |
| NG_015867.1:g.64729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3455C>T | ||
| ENST00000367409.9:c.10168C>T MANE Select | ENSP00000356379.4:p.Arg3390Ter | |
| ENST00000680265.1:c.10390C>T | ENSP00000505384.1:p.Arg3464Ter | |
| ENST00000680710.1:c.10144C>T | ENSP00000506676.1:p.Arg3382Ter | |
| ENST00000294732.11:c.5413C>T | ENSP00000294732.7:p.Arg1805Ter | |
| ENST00000367408.5:c.3163C>T | ENSP00000356378.1:p.Arg1055Ter | |
| ENST00000367409.8:c.10168C>T | ENSP00000356379.4:p.Arg3390Ter | |
| NM_001206846.1:c.5413C>T | NP_001193775.1:p.Arg1805Ter | |
| NM_018136.4:c.10168C>T | NP_060606.3:p.Arg3390Ter | |
| NM_018136.5:c.10168C>T MANE Select | NP_060606.3:p.Arg3390Ter | |
| NM_001206846.2:c.5413C>T | NP_001193775.1:p.Arg1805Ter |