gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226799C>T , CM000673.2:g.5226799C>T | GRCh38 |
| NC_000011.9:g.5248029C>T , CM000673.1:g.5248029C>T | GRCh37 |
| NC_000011.8:g.5204605C>T | NCBI36 |
| NG_000007.3:g.70817G>A | |
| NG_059281.1:g.5273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.93G>A | ENSP00000494175.1:p.Arg31= | |
| ENST00000335295.4:c.93G>A MANE Select | ENSP00000333994.3:p.Arg31= | |
| ENST00000380315.2:c.93G>A | ENSP00000369671.2:p.Arg31= | |
| ENST00000475226.1:n.25G>A | ||
| ENST00000485743.1:n.144G>A | ||
| ENST00000633227.1:c.77G>A | ENSP00000488004.1:p.Gly26Asp | |
| NM_000518.4:c.93G>A | NP_000509.1:p.Arg31= | |
| NM_000518.5:c.93G>A MANE Select | NP_000509.1:p.Arg31= |