Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800172C= , CM000666.2:g.24800172C= | GRCh38 |
| NC_000004.11:g.24801794C= , CM000666.1:g.24801794C= | GRCh37 |
| NC_000004.10:g.24410892C= | NCBI36 |
| NG_012213.1:g.9710C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.651C= MANE Select | ENSP00000371554.3:p.Leu217= | |
| ENST00000382120.3:c.651C= | ENSP00000371554.3:p.Leu217= | |
| NM_003102.2:c.651C= | NP_003093.2:p.Leu217= | |
| XR_427488.1:n.841C= | ||
| NM_003102.3:c.651C= | NP_003093.2:p.Leu217= | |
| NM_003102.4:c.651C= MANE Select | NP_003093.2:p.Leu217= |