Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069157C= , CM000665.2:g.165069157C= | GRCh38 |
| NC_000003.11:g.164786945C= , CM000665.1:g.164786945C= | GRCh37 |
| NC_000003.10:g.166269639C= | NCBI36 |
| NG_017043.1:g.14339G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.294G= MANE Select | ENSP00000264382.3:p.Trp98= | |
| ENST00000264382.7:c.294G= | ENSP00000264382.3:p.Trp98= | |
| ENST00000476593.1:c.*169G= | ENSP00000419450.1:n.*169G= | |
| NM_001041.3:c.294G= | NP_001032.2:p.Trp98= | |
| XM_011513078.1:c.195G= | XP_011511380.1:p.Trp65= | |
| XM_011513078.2:c.195G= | XP_011511380.1:p.Trp65= | |
| NM_001041.4:c.294G= MANE Select | NP_001032.2:p.Trp98= |