Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49894224A>G , CM000676.2:g.49894224A>G | GRCh38 |
| NC_000014.8:g.50360942A>G , CM000676.1:g.50360942A>G | GRCh37 |
| NC_000014.7:g.49430692A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001663.4:c.488A>G MANE Select | NP_001654.1:p.Tyr163Cys |
| ENST00000298316.7:c.488A>G MANE Select | ENSP00000298316.5:p.Tyr163Cys |
| NM_001663.3:c.488A>G | NP_001654.1:p.Tyr163Cys |
| ENST00000298316.6:c.488A>G | ENSP00000298316.5:p.Tyr163Cys |
| ENST00000692608.1:c.101A>G | ENSP00000510807.1:p.Tyr34Cys |
| ENST00000693319.1:c.488A>G | ENSP00000510419.1:p.Tyr163Cys |