Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257464C= , CM000671.2:g.133257464C= | GRCh38 |
| NC_000009.11:g.136132851C= , CM000671.1:g.136132851C= | GRCh37 |
| NC_000009.10:g.135122672C= | NCBI36 |
| NG_006669.1:g.20204G= | |
| NG_006669.2:g.22752G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.348G= | ||
| ENST00000647353.1:n.54-6312G= | ||
| ENST00000651471.1:n.329+578G= | ||
| ENST00000679909.1:c.28+17698G= | ENSP00000506089.1:n.28+17698G= | |
| ENST00000453660.3:n.330G= | ||
| ENST00000538324.2:c.316G= | ENSP00000483018.1:p.Glu106= | |
| ENST00000611156.4:c.316G= | ENSP00000483265.1:p.Glu106= | |
| NM_020469.2:c.319G= | NP_065202.2:p.Glu107= | |
| NM_020469.3:c.319G= | NP_065202.2:p.Glu107= |