Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679628A= , CM000663.2:g.114679628A= | GRCh38 |
| NC_000001.10:g.115222249A= , CM000663.1:g.115222249A= | GRCh37 |
| NC_000001.9:g.115023772A= | NCBI36 |
| NG_008012.1:g.20928T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.836T= | ENSP00000358551.4:p.Leu279= | |
| ENST00000520113.7:c.848T= MANE Select | ENSP00000430075.3:p.Leu283= | |
| ENST00000637080.1:c.631T= | ENSP00000489753.1:n.631T= | |
| ENST00000639077.1:n.513T= | ||
| ENST00000369538.3:c.935T= | ENSP00000358551.3:p.Leu312= | |
| ENST00000520113.6:c.947T= | ENSP00000430075.2:p.Leu316= | |
| NM_000036.2:c.947T= | NP_000027.2:p.Leu316= | |
| NM_001172626.1:c.935T= | NP_001166097.1:p.Leu312= | |
| NM_000036.3:c.848T= MANE Select | NP_000027.3:p.Leu283= | |
| NM_001172626.2:c.836T= | NP_001166097.2:p.Leu279= |