Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565388T= , CM000682.2:g.57565388T= | GRCh38 |
| NC_000020.10:g.56140444T= , CM000682.1:g.56140444T= | GRCh37 |
| NC_000020.9:g.55573850T= | NCBI36 |
| NG_008205.1:g.9308T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1453T= MANE Select | ENSP00000319814.4:p.Phe485= | |
| ENST00000319441.5:c.1453T= | ENSP00000319814.4:p.Phe485= | |
| ENST00000467047.1:n.4095T= | ||
| ENST00000485958.1:n.577T= | ||
| NM_002591.3:c.1453T= | NP_002582.3:p.Phe485= | |
| XM_011528839.1:c.1057T= | XP_011527141.1:p.Phe353= | |
| XM_024451888.1:c.1057T= | XP_024307656.1:p.Phe353= | |
| NM_002591.4:c.1453T= MANE Select | NP_002582.3:p.Phe485= |