Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68685517G= , CM000673.2:g.68685517G= | GRCh38 |
| NC_000011.9:g.68452985G= , CM000673.1:g.68452985G= | GRCh37 |
| NC_000011.8:g.68209561G= | NCBI36 |
| NG_052785.1:g.6043G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015973.5:c.82-77G= MANE Select | NP_057057.2:n.82-77G= |
| ENST00000265643.4:c.82-77G= MANE Select | ENSP00000265643.3:n.82-77G= |
| NM_015973.3:c.82-77G= | NP_057057.2:n.82-77G= |
| NM_015973.4:c.82-77G= | NP_057057.2:n.82-77G= |
| ENST00000265643.3:c.82-77G= | ENSP00000265643.3:n.82-77G= |
| XR_001748281.1:n.230+2324C= |