Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749881G= , CM000677.2:g.74749881G= | GRCh38 |
| NC_000015.9:g.75042222G= , CM000677.1:g.75042222G= | GRCh37 |
| NC_000015.8:g.72829275G= | NCBI36 |
| NG_008431.1:g.32340G= | |
| NG_008431.2:g.32340G= | |
| NG_061543.1:g.6037G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.143G= MANE Select | ENSP00000342007.4:p.Trp48= | |
| ENST00000343932.4:c.143G= | ENSP00000342007.4:p.Trp48= | |
| NM_000761.4:c.143G= | NP_000752.2:p.Trp48= | |
| NM_000761.5:c.143G= MANE Select | NP_000752.2:p.Trp48= |