gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3265425 (AFR)
Genomes Max Group AF
0.3265425 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36820874T>C , CM000663.2:g.36820874T>C | GRCh38 |
| NC_000001.10:g.37286475T>C , CM000663.1:g.37286475T>C | GRCh37 |
| NC_000001.9:g.37059062T>C | NCBI36 |
| NG_011447.1:g.218370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373091.8:c.1755-1020A>G MANE Select | ENSP00000362183.3:n.1755-1020A>G | |
| ENST00000373091.7:c.1755-1020A>G | ENSP00000362183.3:n.1755-1020A>G | |
| ENST00000373093.4:c.1755-1020A>G | ENSP00000362185.4:n.1755-1020A>G | |
| NM_000831.3:c.1755-1020A>G | NP_000822.2:n.1755-1020A>G | |
| XM_011541294.1:c.*1641A>G | XP_011539596.1:n.*1641A>G | |
| XM_011541295.1:c.660-1020A>G | XP_011539597.1:n.660-1020A>G | |
| NM_000831.4:c.1755-1020A>G MANE Select | NP_000822.2:n.1755-1020A>G |