Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66021097G>A , CM000673.2:g.66021097G>A | GRCh38 |
| NC_000011.9:g.65788568G>A , CM000673.1:g.65788568G>A | GRCh37 |
| NC_000011.8:g.65545144G>A | NCBI36 |
| NG_016285.1:g.10421C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.1780C>T MANE Select | NP_444282.3:p.Leu594Phe |
| ENST00000312106.6:c.1780C>T MANE Select | ENSP00000309052.5:p.Leu594Phe |
| NM_053054.3:c.1780C>T | NP_444282.3:p.Leu594Phe |
| ENST00000312106.5:c.1780C>T | ENSP00000309052.5:p.Leu594Phe |
| ENST00000529244.1:n.118C>T | |
| XR_002957121.1:n.1918C>T | |
| XR_002957122.1:n.1872C>T | |
| XR_949785.1:n.1920C>T | |
| XR_949785.2:n.1918C>T | |
| XR_949786.1:n.1920C>T | |
| XR_949787.1:n.1873C>T | |
| XR_949787.2:n.1872C>T |