gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83549771 (AFR)
Genomes Max Group AF
0.83549771 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93756253A>G , CM000675.2:g.93756253A>G | GRCh38 |
| NC_000013.10:g.94408506A>G , CM000675.1:g.94408506A>G | GRCh37 |
| NC_000013.9:g.93206507A>G | NCBI36 |
| NG_011880.1:g.534429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.320-73901A>G MANE Select | ENSP00000366246.3:n.320-73901A>G | |
| ENST00000377047.8:c.320-73901A>G | ENSP00000366246.3:n.320-73901A>G | |
| NM_005708.3:c.320-73901A>G | NP_005699.1:n.320-73901A>G | |
| XM_011521044.1:c.110-73901A>G | XP_011519346.1:n.110-73901A>G | |
| NM_005708.4:c.320-73901A>G | NP_005699.1:n.320-73901A>G | |
| XM_011521044.2:c.110-73901A>G | XP_011519346.1:n.110-73901A>G | |
| XM_017020298.1:c.110-73901A>G | XP_016875787.1:n.110-73901A>G | |
| XM_017020299.2:c.110-73901A>G | XP_016875788.1:n.110-73901A>G | |
| XM_017020300.1:c.110-73901A>G | XP_016875789.1:n.110-73901A>G | |
| NM_005708.5:c.320-73901A>G MANE Select | NP_005699.1:n.320-73901A>G |