Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544202C= , CM000679.2:g.42544202C= | GRCh38 |
| NC_000017.10:g.40696220C= , CM000679.1:g.40696220C= | GRCh37 |
| NC_000017.9:g.37949746C= | NCBI36 |
| NG_011552.1:g.13270C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2196C= MANE Select | ENSP00000225927.1:p.Leu732= | |
| ENST00000225927.6:c.2196C= | ENSP00000225927.1:p.Leu732= | |
| NM_000263.3:c.2196C= | NP_000254.2:p.Leu732= | |
| XM_006721920.2:c.1365C= | XP_006721983.1:p.Leu455= | |
| XM_011524840.1:c.1197C= | XP_011523142.1:p.Leu399= | |
| XM_017024687.1:c.1365C= | XP_016880176.1:p.Leu455= | |
| XM_024450771.1:c.2253C= | XP_024306539.1:p.Leu751= | |
| XM_024450772.1:c.1197C= | XP_024306540.1:p.Leu399= | |
| NM_000263.4:c.2196C= MANE Select | NP_000254.2:p.Leu732= |