Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69816327T>C , CM000673.2:g.69816327T>C | GRCh38 |
| NC_000011.9:g.69631095T>C , CM000673.1:g.69631095T>C | GRCh37 |
| NC_000011.8:g.69340032T>C | NCBI36 |
| NG_009016.1:g.8098A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.317A>G MANE Select | NP_005238.1:p.Tyr106Cys |
| ENST00000334134.4:c.317A>G MANE Select | ENSP00000334122.2:p.Tyr106Cys |
| NM_005247.2:c.317A>G | NP_005238.1:p.Tyr106Cys |
| NM_005247.3:c.317A>G | NP_005238.1:p.Tyr106Cys |
| ENST00000334134.2:c.317A>G | ENSP00000334122.2:p.Tyr106Cys |
| ENST00000646078.1:n.164A>G |