Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750185C= , CM000677.2:g.74750185C= | GRCh38 |
| NC_000015.9:g.75042526C= , CM000677.1:g.75042526C= | GRCh37 |
| NC_000015.8:g.72829579C= | NCBI36 |
| NG_008431.1:g.32644C= | |
| NG_008431.2:g.32644C= | |
| NG_061543.1:g.6341C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.447C= MANE Select | ENSP00000342007.4:p.Ile149= | |
| ENST00000343932.4:c.447C= | ENSP00000342007.4:p.Ile149= | |
| NM_000761.4:c.447C= | NP_000752.2:p.Ile149= | |
| NM_000761.5:c.447C= MANE Select | NP_000752.2:p.Ile149= |