gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54565644 (AFR)
Genomes Max Group AF
0.54565644 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40561644T>C , CM000679.2:g.40561644T>C | GRCh38 |
| NC_000017.10:g.38717896T>C , CM000679.1:g.38717896T>C | GRCh37 |
| NC_000017.9:g.35971422T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246657.2:c.11-2702A>G MANE Select | ENSP00000246657.2:n.11-2702A>G | |
| ENST00000578085.1:c.-130+3756A>G | ENSP00000463075.1:n.-130+3756A>G | |
| NM_001301714.1:c.-130+3756A>G | NP_001288643.1:n.-130+3756A>G | |
| NM_001838.3:c.11-2702A>G | NP_001829.1:n.11-2702A>G | |
| NM_001838.4:c.11-2702A>G MANE Select | NP_001829.1:n.11-2702A>G | |
| NM_001301714.2:c.-130+3756A>G | NP_001288643.1:n.-130+3756A>G |