Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996769A= , CM000665.2:g.164996769A= | GRCh38 |
| NC_000003.11:g.164714557A= , CM000665.1:g.164714557A= | GRCh37 |
| NC_000003.10:g.166197251A= | NCBI36 |
| NG_017043.1:g.86727T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4544T= MANE Select | ENSP00000264382.3:p.Met1515= | |
| ENST00000264382.7:c.4544T= | ENSP00000264382.3:p.Met1515= | |
| NM_001041.3:c.4544T= | NP_001032.2:p.Met1515= | |
| XM_011513078.1:c.4445T= | XP_011511380.1:p.Met1482= | |
| XM_011513078.2:c.4445T= | XP_011511380.1:p.Met1482= | |
| NM_001041.4:c.4544T= MANE Select | NP_001032.2:p.Met1515= |