Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981294A>G , CM000672.2:g.94981294A>G | GRCh38 |
| NC_000010.10:g.96741051A>G , CM000672.1:g.96741051A>G | GRCh37 |
| NC_000010.9:g.96731041A>G | NCBI36 |
| NG_008385.1:g.47637A>G | |
| NG_008385.2:g.48137A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.1073A>G MANE Select | NP_000762.2:p.Tyr358Cys |
| ENST00000260682.8:c.1073A>G MANE Select | ENSP00000260682.6:p.Tyr358Cys |
| NM_000771.3:c.1073A>G | NP_000762.2:p.Tyr358Cys |
| ENST00000260682.6:c.1073A>G | ENSP00000260682.6:p.Tyr358Cys |
| ENST00000643112.1:c.*82A>G | ENSP00000496202.1:n.*82A>G |