Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226580G>C , CM000673.2:g.5226580G>C | GRCh38 |
| NC_000011.9:g.5247810G>C , CM000673.1:g.5247810G>C | GRCh37 |
| NC_000011.8:g.5204386G>C | NCBI36 |
| NG_000007.3:g.71036C>G | |
| NG_059281.1:g.5492C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.312C>G | ENSP00000494175.1:p.Phe104Leu | |
| ENST00000335295.4:c.312C>G MANE Select | ENSP00000333994.3:p.Phe104Leu | |
| ENST00000475226.1:n.244C>G | ||
| ENST00000485743.1:n.363C>G | ||
| ENST00000633227.1:c.*128C>G | ENSP00000488004.1:n.*128C>G | |
| NM_000518.4:c.312C>G | NP_000509.1:p.Phe104Leu | |
| NM_000518.5:c.312C>G MANE Select | NP_000509.1:p.Phe104Leu |