Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420745G= , CM000666.2:g.99420745G= | GRCh38 |
| NC_000004.11:g.100341902G= , CM000666.1:g.100341902G= | GRCh37 |
| NC_000004.10:g.100560925G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.613C= MANE Select | ENSP00000414254.2:p.Leu205= | |
| ENST00000209665.8:c.649C= | ENSP00000209665.4:p.Leu217= | |
| ENST00000437033.6:c.613C= | ENSP00000414254.2:p.Leu205= | |
| ENST00000476959.5:c.673C= | ENSP00000420269.1:p.Leu225= | |
| ENST00000482593.5:c.442C= | ENSP00000420613.1:p.Leu148= | |
| NM_000673.4:c.649C= | NP_000664.2:p.Leu217= | |
| NM_001166504.1:c.673C= | NP_001159976.1:p.Leu225= | |
| NM_000673.7:c.613C= MANE Select | NP_000664.3:p.Leu205= | |
| NM_001166504.2:c.673C= | NP_001159976.1:p.Leu225= |