Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132444356G= , CM000665.2:g.132444356G= | GRCh38 |
| NC_000003.11:g.132163200G= , CM000665.1:g.132163200G= | GRCh37 |
| NC_000003.10:g.133645890G= | NCBI36 |
| NG_051045.1:g.31830G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015268.4:c.69-2119G= MANE Select | NP_056083.3:n.69-2119G= |
| ENST00000260818.11:c.69-2119G= MANE Select | ENSP00000260818.6:n.69-2119G= |
| NM_001329126.1:c.69-2119G= | NP_001316055.1:n.69-2119G= |
| NM_001329126.2:c.69-2119G= | NP_001316055.1:n.69-2119G= |
| NM_015268.3:c.69-2119G= | NP_056083.3:n.69-2119G= |
| ENST00000260818.10:c.69-2119G= | ENSP00000260818.6:n.69-2119G= |
| ENST00000486798.5:n.134-2119G= | |
| ENST00000650455.1:c.69-2119G= | ENSP00000496825.1:n.69-2119G= |
| XM_005247245.3:c.69-2119G= | XP_005247302.1:n.69-2119G= |