Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872153T= , CM000671.2:g.130872153T= | GRCh38 |
| NC_000009.11:g.133747540T= , CM000671.1:g.133747540T= | GRCh37 |
| NC_000009.10:g.132737361T= | NCBI36 |
| NG_012034.1:g.163273T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005157.6:c.847T= MANE Select | NP_005148.2:p.Phe283= |
| ENST00000318560.6:c.847T= MANE Select | ENSP00000323315.5:p.Phe283= |
| NM_005157.5:c.847T= | NP_005148.2:p.Phe283= |
| NM_007313.2:c.904T= | NP_009297.2:p.Phe302= |
| NM_007313.3:c.904T= | NP_009297.2:p.Phe302= |
| ENST00000318560.5:c.847T= | ENSP00000323315.5:p.Phe283= |
| ENST00000372348.6:c.904T= | ENSP00000361423.2:p.Phe302= |
| ENST00000372348.7:c.904T= | ENSP00000361423.2:p.Phe302= |
| ENST00000372348.9:c.904T= | ENSP00000361423.2:p.Phe302= |