Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652589G>C , CM000682.2:g.10652589G>C | GRCh38 |
| NC_000020.10:g.10633237G>C , CM000682.1:g.10633237G>C | GRCh37 |
| NC_000020.9:g.10581237G>C | NCBI36 |
| NG_007496.1:g.26458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.765C>G MANE Select | ENSP00000254958.4:p.Tyr255Ter | |
| ENST00000617965.2:n.134C>G | ||
| ENST00000254958.9:c.765C>G | ENSP00000254958.4:p.Tyr255Ter | |
| ENST00000423891.6:n.631C>G | ||
| ENST00000617965.1:n.134C>G | ||
| NM_000214.2:c.765C>G | NP_000205.1:p.Tyr255Ter | |
| NM_000214.3:c.765C>G MANE Select | NP_000205.1:p.Tyr255Ter |