Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229996790A>G , CM000664.2:g.229996790A>G | GRCh38 |
| NC_000002.11:g.230861506A>G , CM000664.1:g.230861506A>G | GRCh37 |
| NC_000002.10:g.230569750A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174899.5:c.245A>G MANE Select | NP_777559.3:p.Tyr82Cys |
| ENST00000283946.8:c.245A>G MANE Select | ENSP00000283946.3:p.Tyr82Cys |
| NM_174899.4:c.245A>G | NP_777559.3:p.Tyr82Cys |
| ENST00000283946.7:c.245A>G | ENSP00000283946.3:p.Tyr82Cys |
| ENST00000373652.7:c.152A>G | ENSP00000362756.3:p.Tyr51Cys |
| ENST00000409992.1:c.206-21A>G | ENSP00000386673.1:n.206-21A>G |
| XM_005246317.1:c.170A>G | XP_005246374.1:p.Tyr57Cys |
| XM_005246317.2:c.170A>G | XP_005246374.1:p.Tyr57Cys |