Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82095831C>T , CM000678.2:g.82095831C>T | GRCh38 |
| NC_000016.9:g.82129436C>T , CM000678.1:g.82129436C>T | GRCh37 |
| NC_000016.8:g.80686937C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199936.9:c.803-2244C>T MANE Select | ENSP00000199936.4:n.803-2244C>T | |
| ENST00000199936.8:c.803-2244C>T | ENSP00000199936.4:n.803-2244C>T | |
| ENST00000566838.2:c.5222C>T | ENSP00000456471.1:n.5222C>T | |
| ENST00000568090.5:c.395-2244C>T | ENSP00000456529.1:n.395-2244C>T | |
| NM_002153.2:c.803-2244C>T | NP_002144.1:n.803-2244C>T | |
| XR_001751898.2:n.1021-2244C>T | ||
| NM_002153.3:c.803-2244C>T MANE Select | NP_002144.1:n.803-2244C>T |