Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226755A>T , CM000673.2:g.5226755A>T | GRCh38 |
| NC_000011.9:g.5247985A>T , CM000673.1:g.5247985A>T | GRCh37 |
| NC_000011.8:g.5204561A>T | NCBI36 |
| NG_000007.3:g.70861T>A | |
| NG_059281.1:g.5317T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.137T>A MANE Select | NP_000509.1:p.Phe46Tyr |
| ENST00000335295.4:c.137T>A MANE Select | ENSP00000333994.3:p.Phe46Tyr |
| NM_000518.4:c.137T>A | NP_000509.1:p.Phe46Tyr |
| ENST00000380315.2:c.137T>A | ENSP00000369671.2:p.Phe46Tyr |
| ENST00000475226.1:n.69T>A | |
| ENST00000485743.1:n.188T>A | |
| ENST00000633227.1:c.121T>A | ENSP00000488004.1:p.Leu41Met |
| ENST00000647020.1:c.137T>A | ENSP00000494175.1:p.Phe46Tyr |