Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114670393C= , CM000674.2:g.114670393C= | GRCh38 |
| NC_000012.11:g.115108198C= , CM000674.1:g.115108198C= | GRCh37 |
| NC_000012.10:g.113592581C= | NCBI36 |
| NG_008315.1:g.18772G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.*1448G= MANE Select | ENSP00000257567.2:n.*1448G= | |
| ENST00000257566.7:c.*1448G= | ENSP00000257566.3:n.*1448G= | |
| ENST00000349155.6:c.*1448G= | ENSP00000257567.2:n.*1448G= | |
| NM_005996.3:c.*1448G= | NP_005987.3:n.*1448G= | |
| NM_016569.3:c.*1448G= | NP_057653.3:n.*1448G= | |
| NM_005996.4:c.*1448G= MANE Select | NP_005987.3:n.*1448G= | |
| NM_016569.4:c.*1448G= | NP_057653.3:n.*1448G= |