gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50241182 (EAS)
Genomes Max Group AF
0.50241182 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240531955C>T , CM000663.2:g.240531955C>T | GRCh38 |
| NC_000001.10:g.240695255C>T , CM000663.1:g.240695255C>T | GRCh37 |
| NC_000001.9:g.238761878C>T | NCBI36 |
| NG_053136.1:g.85418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318160.5:c.-1-38479G>A MANE Select | ENSP00000318650.4:n.-1-38479G>A | |
| ENST00000318160.4:c.-1-38479G>A | ENSP00000318650.4:n.-1-38479G>A | |
| NM_022469.3:c.-1-38479G>A | NP_071914.3:n.-1-38479G>A | |
| XM_011544249.1:c.-121-34358G>A | XP_011542551.1:n.-121-34358G>A | |
| XM_011544249.2:c.-121-34358G>A | XP_011542551.1:n.-121-34358G>A | |
| NM_022469.4:c.-1-38479G>A MANE Select | NP_071914.3:n.-1-38479G>A |