gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66880267 (EAS)
Genomes Max Group AF
0.66880267 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23222622G>A , CM000670.2:g.23222622G>A | GRCh38 |
| NC_000008.10:g.23080135G>A , CM000670.1:g.23080135G>A | GRCh37 |
| NC_000008.9:g.23136080G>A | NCBI36 |
| NG_032107.1:g.7546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.306+2134C>T MANE Select | ENSP00000221132.3:n.306+2134C>T | |
| ENST00000221132.7:c.306+2134C>T | ENSP00000221132.3:n.306+2134C>T | |
| ENST00000524158.5:c.-301+1811C>T | ENSP00000428884.1:n.-301+1811C>T | |
| ENST00000613472.1:c.31+2409C>T | ENSP00000480778.1:n.31+2409C>T | |
| NM_003844.3:c.306+2134C>T | NP_003835.3:n.306+2134C>T | |
| NM_003844.4:c.306+2134C>T MANE Select | NP_003835.3:n.306+2134C>T |