gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62523345 (AFR)
Genomes Max Group AF
0.62523345 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46835968T>A , CM000675.2:g.46835968T>A | GRCh38 |
| NC_000013.10:g.47410103T>A , CM000675.1:g.47410103T>A | GRCh37 |
| NC_000013.9:g.46308104T>A | NCBI36 |
| NG_013011.1:g.66067A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.614-329A>T MANE Select | ENSP00000437737.1:n.614-329A>T | |
| ENST00000543956.5:c.125-329A>T | ENSP00000441861.2:n.125-329A>T | |
| ENST00000378688.8:c.614-329A>T | ENSP00000367959.3:n.614-329A>T | |
| ENST00000542664.3:c.614-329A>T | ENSP00000437737.1:n.614-329A>T | |
| ENST00000543956.4:c.362-329A>T | ENSP00000441861.1:n.362-329A>T | |
| NM_000621.4:c.614-329A>T | NP_000612.1:n.614-329A>T | |
| NM_001165947.2:c.362-329A>T | NP_001159419.1:n.362-329A>T | |
| NM_000621.5:c.614-329A>T MANE Select | NP_000612.1:n.614-329A>T | |
| NM_001165947.5:c.125-329A>T | NP_001159419.2:n.125-329A>T | |
| NM_001378924.1:c.614-329A>T | NP_001365853.1:n.614-329A>T |