Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478525C>A , CM000670.2:g.81478525C>A | GRCh38 |
| NC_000008.10:g.82390760C>A , CM000670.1:g.82390760C>A | GRCh37 |
| NC_000008.9:g.82553315C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001442.3:c.*340G>T MANE Select | NP_001433.1:n.*340G>T |
| ENST00000256104.5:c.*340G>T MANE Select | ENSP00000256104.4:n.*340G>T |
| NM_001442.2:c.*340G>T | NP_001433.1:n.*340G>T |
| ENST00000256104.4:c.*340G>T | ENSP00000256104.4:n.*340G>T |
| XR_001745980.1:n.514+16551C>A |