Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164982893C= , CM000665.2:g.164982893C= | GRCh38 |
| NC_000003.11:g.164700681C= , CM000665.1:g.164700681C= | GRCh37 |
| NC_000003.10:g.166183375C= | NCBI36 |
| NG_017043.1:g.100603G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.5247+109G= MANE Select | NP_001032.2:n.5247+109G= |
| ENST00000264382.8:c.5247+109G= MANE Select | ENSP00000264382.3:n.5247+109G= |
| NM_001041.3:c.5247+109G= | NP_001032.2:n.5247+109G= |
| ENST00000264382.7:c.5247+109G= | ENSP00000264382.3:n.5247+109G= |
| XM_011513078.1:c.5148+109G= | XP_011511380.1:n.5148+109G= |
| XM_011513078.2:c.5148+109G= | XP_011511380.1:n.5148+109G= |