Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780540G= , CM000667.2:g.78780540G= | GRCh38 |
| NC_000005.9:g.78076363G= , CM000667.1:g.78076363G= | GRCh37 |
| NC_000005.8:g.78112119G= | NCBI36 |
| NG_007089.1:g.210995C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1459C= MANE Select | ENSP00000264914.4:p.Leu487= | |
| ENST00000264914.8:c.1459C= | ENSP00000264914.4:p.Leu487= | |
| ENST00000521011.1:n.424C= | ||
| NM_000046.3:c.1459C= | NP_000037.2:p.Leu487= | |
| XM_011543390.1:c.1459C= | XP_011541692.1:p.Leu487= | |
| NM_000046.4:c.1459C= | NP_000037.2:p.Leu487= | |
| NM_000046.5:c.1459C= MANE Select | NP_000037.2:p.Leu487= |