Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9602982G>T , CM000674.2:g.9602982G>T | GRCh38 |
| NC_000012.11:g.9755578G>T , CM000674.1:g.9755578G>T | GRCh37 |
| NC_000012.10:g.9646845G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002258.3:c.86-1383C>A MANE Select | NP_002249.1:n.86-1383C>A |
| ENST00000229402.4:c.86-1383C>A MANE Select | ENSP00000229402.3:n.86-1383C>A |
| NM_002258.2:c.86-1383C>A | NP_002249.1:n.86-1383C>A |
| ENST00000229402.3:c.86-1383C>A | ENSP00000229402.3:n.86-1383C>A |