gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5506459 (AFR)
Genomes Max Group AF
0.5506459 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31912988G>A , CM000683.2:g.31912988G>A | GRCh38 |
| NC_000021.8:g.33285300G>A , CM000683.1:g.33285300G>A | GRCh37 |
| NC_000021.7:g.32207171G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270112.7:c.262-11480G>A MANE Select | ENSP00000270112.2:n.262-11480G>A | |
| ENST00000270112.6:c.262-11480G>A | ENSP00000270112.2:n.262-11480G>A | |
| NM_014586.1:c.262-11480G>A | NP_055401.1:n.262-11480G>A | |
| XM_011529537.1:c.262-11480G>A | XP_011527839.1:n.262-11480G>A | |
| XM_011529537.2:c.262-11480G>A | XP_011527839.1:n.262-11480G>A | |
| NM_014586.2:c.262-11480G>A MANE Select | NP_055401.1:n.262-11480G>A |