Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82081670T>A , CM000678.2:g.82081670T>A | GRCh38 |
| NC_000016.9:g.82115275T>A , CM000678.1:g.82115275T>A | GRCh37 |
| NC_000016.8:g.80672776T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002153.3:c.665-9232T>A MANE Select | NP_002144.1:n.665-9232T>A |
| ENST00000199936.9:c.665-9232T>A MANE Select | ENSP00000199936.4:n.665-9232T>A |
| NM_002153.2:c.665-9232T>A | NP_002144.1:n.665-9232T>A |
| ENST00000199936.8:c.665-9232T>A | ENSP00000199936.4:n.665-9232T>A |
| ENST00000566838.2:c.293-9232T>A | ENSP00000456471.1:n.293-9232T>A |
| ENST00000568090.5:c.257-9232T>A | ENSP00000456529.1:n.257-9232T>A |
| XR_001751898.2:n.814-8495T>A | |
| XR_243405.2:n.853-8495T>A |