Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679623C= , CM000663.2:g.114679623C= | GRCh38 |
| NC_000001.10:g.115222244C= , CM000663.1:g.115222244C= | GRCh37 |
| NC_000001.9:g.115023767C= | NCBI36 |
| NG_008012.1:g.20933G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.841G= | ENSP00000358551.4:p.Glu281= | |
| ENST00000520113.7:c.853G= MANE Select | ENSP00000430075.3:p.Glu285= | |
| ENST00000637080.1:c.636G= | ENSP00000489753.1:n.636G= | |
| ENST00000639077.1:n.518G= | ||
| ENST00000369538.3:c.940G= | ENSP00000358551.3:p.Glu314= | |
| ENST00000520113.6:c.952G= | ENSP00000430075.2:p.Glu318= | |
| NM_000036.2:c.952G= | NP_000027.2:p.Glu318= | |
| NM_001172626.1:c.940G= | NP_001166097.1:p.Glu314= | |
| NM_000036.3:c.853G= MANE Select | NP_000027.3:p.Glu285= | |
| NM_001172626.2:c.841G= | NP_001166097.2:p.Glu281= |