Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25015657G>C , CM000685.2:g.25015657G>C | GRCh38 |
| NC_000023.10:g.25033774G>C , CM000685.1:g.25033774G>C | GRCh37 |
| NC_000023.9:g.24943695G>C | NCBI36 |
| NG_008281.1:g.5292C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.81C>G MANE Select | NP_620689.1:p.Tyr27Ter |
| ENST00000379044.5:c.81C>G MANE Select | ENSP00000368332.4:p.Tyr27Ter |
| NM_139058.2:c.81C>G | NP_620689.1:p.Tyr27Ter |
| ENST00000379044.4:c.81C>G | ENSP00000368332.4:p.Tyr27Ter |
| ENST00000636609.1:n.36-12C>G | |
| ENST00000637394.1:n.68-12C>G |