Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54459525T>A , CM000670.2:g.54459525T>A | GRCh38 |
| NC_000008.10:g.55372085T>A , CM000670.1:g.55372085T>A | GRCh37 |
| NC_000008.9:g.55534638T>A | NCBI36 |
| NG_028171.1:g.6591T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022454.4:c.775T>A MANE Select | NP_071899.1:p.Tyr259Asn |
| ENST00000297316.5:c.775T>A MANE Select | ENSP00000297316.4:p.Tyr259Asn |
| NM_022454.3:c.775T>A | NP_071899.1:p.Tyr259Asn |
| ENST00000297316.4:c.775T>A | ENSP00000297316.4:p.Tyr259Asn |