Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54459525T= , CM000670.2:g.54459525T= | GRCh38 |
| NC_000008.10:g.55372085T= , CM000670.1:g.55372085T= | GRCh37 |
| NC_000008.9:g.55534638T= | NCBI36 |
| NG_028171.1:g.6591T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022454.4:c.775T= MANE Select | NP_071899.1:p.Tyr259= |
| ENST00000297316.5:c.775T= MANE Select | ENSP00000297316.4:p.Tyr259= |
| NM_022454.3:c.775T= | NP_071899.1:p.Tyr259= |
| ENST00000297316.4:c.775T= | ENSP00000297316.4:p.Tyr259= |