gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226577C>T , CM000673.2:g.5226577C>T | GRCh38 |
| NC_000011.9:g.5247807C>T , CM000673.1:g.5247807C>T | GRCh37 |
| NC_000011.8:g.5204383C>T | NCBI36 |
| NG_000007.3:g.71039G>A | |
| NG_059281.1:g.5495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315G>A | ENSP00000494175.1:p.Arg105= | |
| ENST00000335295.4:c.315G>A MANE Select | ENSP00000333994.3:p.Arg105= | |
| ENST00000475226.1:n.247G>A | ||
| ENST00000485743.1:n.366G>A | ||
| ENST00000633227.1:c.*131G>A | ENSP00000488004.1:n.*131G>A | |
| NM_000518.4:c.315G>A | NP_000509.1:p.Arg105= | |
| NM_000518.5:c.315G>A MANE Select | NP_000509.1:p.Arg105= |