Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226716G>A , CM000673.2:g.5226716G>A | GRCh38 |
| NC_000011.9:g.5247946G>A , CM000673.1:g.5247946G>A | GRCh37 |
| NC_000011.8:g.5204522G>A | NCBI36 |
| NG_000007.3:g.70900C>T | |
| NG_059281.1:g.5356C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.176C>T MANE Select | NP_000509.1:p.Pro59Leu |
| ENST00000335295.4:c.176C>T MANE Select | ENSP00000333994.3:p.Pro59Leu |
| NM_000518.4:c.176C>T | NP_000509.1:p.Pro59Leu |
| ENST00000380315.2:c.176C>T | ENSP00000369671.2:p.Pro59Leu |
| ENST00000475226.1:n.108C>T | |
| ENST00000485743.1:n.227C>T | |
| ENST00000633227.1:c.160C>T | ENSP00000488004.1:p.Leu54= |
| ENST00000647020.1:c.176C>T | ENSP00000494175.1:p.Pro59Leu |