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