Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69819192G= , CM000673.2:g.69819192G= | GRCh38 |
| NC_000011.9:g.69633960G= , CM000673.1:g.69633960G= | GRCh37 |
| NC_000011.8:g.69342897G= | NCBI36 |
| NG_009016.1:g.5233C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.-259C= MANE Select | NP_005238.1:n.-259C= |
| ENST00000334134.4:c.-259C= MANE Select | ENSP00000334122.2:n.-259C= |
| NM_005247.2:c.-259C= | NP_005238.1:n.-259C= |
| NM_005247.3:c.-259C= | NP_005238.1:n.-259C= |
| XR_001748071.1:n.86+119G= |