Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12899157T= , CM000672.2:g.12899157T= | GRCh38 |
| NC_000010.10:g.12941157T= , CM000672.1:g.12941157T= | GRCh37 |
| NC_000010.9:g.12981163T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031455.4:c.550-478A= MANE Select | NP_113643.1:n.550-478A= |
| ENST00000378825.5:c.550-478A= MANE Select | ENSP00000368102.3:n.550-478A= |
| NM_001282658.1:c.175-478A= | NP_001269587.1:n.175-478A= |
| NM_001282658.2:c.175-478A= | NP_001269587.1:n.175-478A= |
| NM_031455.3:c.550-478A= | NP_113643.1:n.550-478A= |
| ENST00000378825.4:c.550-478A= | ENSP00000368102.3:n.550-478A= |
| ENST00000378839.1:c.175-478A= | ENSP00000368116.1:n.175-478A= |