Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565511C= , CM000682.2:g.57565511C= | GRCh38 |
| NC_000020.10:g.56140567C= , CM000682.1:g.56140567C= | GRCh37 |
| NC_000020.9:g.55573973C= | NCBI36 |
| NG_008205.1:g.9431C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1576C= MANE Select | ENSP00000319814.4:p.Leu526= | |
| ENST00000319441.5:c.1576C= | ENSP00000319814.4:p.Leu526= | |
| ENST00000467047.1:n.4218C= | ||
| NM_002591.3:c.1576C= | NP_002582.3:p.Leu526= | |
| XM_011528839.1:c.1180C= | XP_011527141.1:p.Leu394= | |
| XM_024451888.1:c.1180C= | XP_024307656.1:p.Leu394= | |
| NM_002591.4:c.1576C= MANE Select | NP_002582.3:p.Leu526= |