Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413934C= , CM000665.2:g.119413934C= | GRCh38 |
| NC_000003.11:g.119132781C= , CM000665.1:g.119132781C= | GRCh37 |
| NC_000003.10:g.120615471C= | NCBI36 |
| NG_007665.2:g.124562C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2005C= MANE Select | ENSP00000264245.4:p.Leu669= | |
| ENST00000264245.8:c.2005C= | ENSP00000264245.4:p.Leu669= | |
| NM_020754.3:c.2005C= | NP_065805.2:p.Leu669= | |
| XM_005247671.3:c.1912C= | XP_005247728.1:p.Leu638= | |
| XM_006713714.2:c.1945C= | XP_006713777.1:p.Leu649= | |
| XM_006713714.3:c.1945C= | XP_006713777.1:p.Leu649= | |
| XM_017006955.1:c.1513C= | XP_016862444.1:p.Leu505= | |
| NM_020754.4:c.2005C= MANE Select | NP_065805.2:p.Leu669= |