Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679620G= , CM000663.2:g.114679620G= | GRCh38 |
| NC_000001.10:g.115222241G= , CM000663.1:g.115222241G= | GRCh37 |
| NC_000001.9:g.115023764G= | NCBI36 |
| NG_008012.1:g.20936C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.844C= | ENSP00000358551.4:p.Leu282= | |
| ENST00000520113.7:c.856C= MANE Select | ENSP00000430075.3:p.Leu286= | |
| ENST00000637080.1:c.639C= | ENSP00000489753.1:n.639C= | |
| ENST00000639077.1:n.521C= | ||
| ENST00000369538.3:c.943C= | ENSP00000358551.3:p.Leu315= | |
| ENST00000520113.6:c.955C= | ENSP00000430075.2:p.Leu319= | |
| NM_000036.2:c.955C= | NP_000027.2:p.Leu319= | |
| NM_001172626.1:c.943C= | NP_001166097.1:p.Leu315= | |
| NM_000036.3:c.856C= MANE Select | NP_000027.3:p.Leu286= | |
| NM_001172626.2:c.844C= | NP_001166097.2:p.Leu282= |