Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420544G>T , CM000666.2:g.99420544G>T | GRCh38 |
| NC_000004.11:g.100341701G>T , CM000666.1:g.100341701G>T | GRCh37 |
| NC_000004.10:g.100560724G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.814C>A MANE Select | ENSP00000414254.2:p.Leu272Ile | |
| ENST00000209665.8:c.850C>A | ENSP00000209665.4:p.Leu284Ile | |
| ENST00000437033.6:c.814C>A | ENSP00000414254.2:p.Leu272Ile | |
| ENST00000476959.5:c.874C>A | ENSP00000420269.1:p.Leu292Ile | |
| ENST00000482593.5:c.643C>A | ENSP00000420613.1:p.Leu215Ile | |
| NM_000673.4:c.850C>A | NP_000664.2:p.Leu284Ile | |
| NM_001166504.1:c.874C>A | NP_001159976.1:p.Leu292Ile | |
| NM_000673.7:c.814C>A MANE Select | NP_000664.3:p.Leu272Ile | |
| NM_001166504.2:c.874C>A | NP_001159976.1:p.Leu292Ile |