Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751650T>A , CM000673.2:g.64751650T>A | GRCh38 |
| NC_000011.9:g.64519122T>A , CM000673.1:g.64519122T>A | GRCh37 |
| NC_000011.8:g.64275698T>A | NCBI36 |
| NG_013018.1:g.14066A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1774A>T MANE Select | NP_005600.1:p.Lys592Ter |
| ENST00000164139.4:c.1774A>T MANE Select | ENSP00000164139.3:p.Lys592Ter |
| NM_001164716.1:c.1510A>T | NP_001158188.1:p.Lys504Ter |
| NM_005609.2:c.1774A>T | NP_005600.1:p.Lys592Ter |
| NM_005609.3:c.1774A>T | NP_005600.1:p.Lys592Ter |
| ENST00000164139.3:c.1774A>T | ENSP00000164139.3:p.Lys592Ter |
| ENST00000377432.7:c.1510A>T | ENSP00000366650.3:p.Lys504Ter |
| ENST00000462303.1:n.98A>T |