gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47514651 (EAS)
Genomes Max Group AF
0.55369101 (EAS)
Exomes Max Group AF
0.46312534 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33007237T>C , CM000668.2:g.33007237T>C | GRCh38 |
| NC_000006.11:g.32975014T>C , CM000668.1:g.32975014T>C | GRCh37 |
| NC_000006.10:g.33082992T>C | NCBI36 |
| NG_012007.1:g.7376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.614-22A>G MANE Select | ENSP00000229829.3:n.614-22A>G | |
| ENST00000229829.6:c.614-22A>G | ENSP00000229829.3:n.614-22A>G | |
| ENST00000450833.3:c.*427-22A>G | ENSP00000403896.3:n.*427-22A>G | |
| ENST00000485901.1:n.398A>G | ||
| ENST00000490305.5:n.32-22A>G | ||
| NM_002119.3:c.614-22A>G | NP_002110.1:n.614-22A>G | |
| XM_005249047.3:c.571-22A>G | XP_005249104.1:n.571-22A>G | |
| XM_006715076.2:c.524-22A>G | XP_006715139.1:n.524-22A>G | |
| XM_011514558.1:c.332-22A>G | XP_011512860.1:n.332-22A>G | |
| NM_002119.4:c.614-22A>G MANE Select | NP_002110.1:n.614-22A>G |