gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001455 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42477381G>A , CM000683.2:g.42477381G>A | GRCh38 |
| NC_000021.8:g.43897491G>A , CM000683.1:g.43897491G>A | GRCh37 |
| NC_000021.7:g.42770560G>A | NCBI36 |
| NG_034257.1:g.23974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.637C>T MANE Select | ENSP00000291536.3:p.Gln213Ter | |
| ENST00000291536.7:c.637C>T | ENSP00000291536.3:p.Gln213Ter | |
| ENST00000398352.3:c.523C>T | ENSP00000381395.3:p.Gln175Ter | |
| ENST00000493019.1:n.2255C>T | ||
| NM_001286506.1:c.523C>T | NP_001273435.1:p.Gln175Ter | |
| NM_080860.3:c.637C>T | NP_543136.1:p.Gln213Ter | |
| XM_005261208.1:c.430C>T | XP_005261265.1:p.Gln144Ter | |
| XM_011529786.1:c.565C>T | XP_011528088.1:p.Gln189Ter | |
| XM_005261208.2:c.430C>T | XP_005261265.1:p.Gln144Ter | |
| NM_080860.4:c.637C>T MANE Select | NP_543136.1:p.Gln213Ter | |
| NM_001286506.2:c.523C>T | NP_001273435.1:p.Gln175Ter |