Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679616T= , CM000663.2:g.114679616T= | GRCh38 |
| NC_000001.10:g.115222237T= , CM000663.1:g.115222237T= | GRCh37 |
| NC_000001.9:g.115023760T= | NCBI36 |
| NG_008012.1:g.20940A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.848A= | ENSP00000358551.4:p.Lys283= | |
| ENST00000520113.7:c.860A= MANE Select | ENSP00000430075.3:p.Lys287= | |
| ENST00000637080.1:c.643A= | ENSP00000489753.1:n.643A= | |
| ENST00000639077.1:n.525A= | ||
| ENST00000369538.3:c.947A= | ENSP00000358551.3:p.Lys316= | |
| ENST00000520113.6:c.959A= | ENSP00000430075.2:p.Lys320= | |
| NM_000036.2:c.959A= | NP_000027.2:p.Lys320= | |
| NM_001172626.1:c.947A= | NP_001166097.1:p.Lys316= | |
| NM_000036.3:c.860A= MANE Select | NP_000027.3:p.Lys287= | |
| NM_001172626.2:c.848A= | NP_001166097.2:p.Lys283= |