Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82095908G>A , CM000678.2:g.82095908G>A | GRCh38 |
| NC_000016.9:g.82129513G>A , CM000678.1:g.82129513G>A | GRCh37 |
| NC_000016.8:g.80687014G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199936.9:c.803-2167G>A MANE Select | ENSP00000199936.4:n.803-2167G>A | |
| ENST00000199936.8:c.803-2167G>A | ENSP00000199936.4:n.803-2167G>A | |
| ENST00000566838.2:c.5299G>A | ENSP00000456471.1:n.5299G>A | |
| ENST00000568090.5:c.395-2167G>A | ENSP00000456529.1:n.395-2167G>A | |
| NM_002153.2:c.803-2167G>A | NP_002144.1:n.803-2167G>A | |
| XR_001751898.2:n.1021-2167G>A | ||
| NM_002153.3:c.803-2167G>A MANE Select | NP_002144.1:n.803-2167G>A |