Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751944G= , CM000677.2:g.74751944G= | GRCh38 |
| NC_000015.9:g.75044285G= , CM000677.1:g.75044285G= | GRCh37 |
| NC_000015.8:g.72831338G= | NCBI36 |
| NG_008431.1:g.34403G= | |
| NG_008431.2:g.34403G= | |
| NG_061543.1:g.8100G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1042+90G= MANE Select | ENSP00000342007.4:n.1042+90G= | |
| ENST00000343932.4:c.1042+90G= | ENSP00000342007.4:n.1042+90G= | |
| NM_000761.4:c.1042+90G= | NP_000752.2:n.1042+90G= | |
| NM_000761.5:c.1042+90G= MANE Select | NP_000752.2:n.1042+90G= |