Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955476G>C , CM000673.2:g.102955476G>C | GRCh38 |
| NC_000011.9:g.102826205G>C , CM000673.1:g.102826205G>C | GRCh37 |
| NC_000011.8:g.102331415G>C | NCBI36 |
| NG_021404.1:g.5259C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.138C>G MANE Select | ENSP00000260302.3:p.Tyr46Ter | |
| ENST00000260302.7:c.138C>G | ENSP00000260302.3:p.Tyr46Ter | |
| ENST00000340273.4:c.138C>G | ENSP00000339672.4:p.Tyr46Ter | |
| ENST00000615555.4:c.138C>G | ENSP00000482883.1:p.Tyr46Ter | |
| NM_002427.3:c.138C>G | NP_002418.1:p.Tyr46Ter | |
| NM_002427.4:c.138C>G MANE Select | NP_002418.1:p.Tyr46Ter |