Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323599G= , CM000677.2:g.73323599G= | GRCh38 |
| NC_000015.9:g.73615940G= , CM000677.1:g.73615940G= | GRCh37 |
| NC_000015.8:g.71402993G= | NCBI36 |
| NG_009063.1:g.50666C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2494C= MANE Select | ENSP00000261917.3:p.Leu832= | |
| ENST00000261917.3:c.2494C= | ENSP00000261917.3:p.Leu832= | |
| NM_005477.2:c.2494C= | NP_005468.1:p.Leu832= | |
| XM_011521148.1:c.1276C= | XP_011519450.1:p.Leu426= | |
| XM_011521148.2:c.1276C= | XP_011519450.1:p.Leu426= | |
| NM_005477.3:c.2494C= MANE Select | NP_005468.1:p.Leu832= |