Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64752477G>A , CM000673.2:g.64752477G>A | GRCh38 |
| NC_000011.9:g.64519949G>A , CM000673.1:g.64519949G>A | GRCh37 |
| NC_000011.8:g.64276525G>A | NCBI36 |
| NG_013018.1:g.13239C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1546C>T MANE Select | NP_005600.1:p.Leu516= |
| ENST00000164139.4:c.1546C>T MANE Select | ENSP00000164139.3:p.Leu516= |
| NM_001164716.1:c.1282C>T | NP_001158188.1:p.Leu428= |
| NM_005609.2:c.1546C>T | NP_005600.1:p.Leu516= |
| NM_005609.3:c.1546C>T | NP_005600.1:p.Leu516= |
| ENST00000164139.3:c.1546C>T | ENSP00000164139.3:p.Leu516= |
| ENST00000377432.7:c.1282C>T | ENSP00000366650.3:p.Leu428= |