Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307152C= , CM000673.2:g.121307152C= | GRCh38 |
| NC_000011.9:g.121177861C= , CM000673.1:g.121177861C= | GRCh37 |
| NC_000011.8:g.120683071C= | NCBI36 |
| NG_009446.1:g.19474C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.540C= MANE Select | ENSP00000264027.4:p.Tyr180= | |
| ENST00000264027.8:c.540C= | ENSP00000264027.4:p.Tyr180= | |
| ENST00000392789.2:c.540C= | ENSP00000376539.2:p.Tyr180= | |
| ENST00000527183.1:n.833C= | ||
| ENST00000528991.1:n.233C= | ||
| ENST00000534230.5:c.540C= | ENSP00000432550.1:p.Tyr180= | |
| NM_001024956.2:c.540C= | NP_001020127.1:p.Tyr180= | |
| NM_006918.4:c.540C= | NP_008849.2:p.Tyr180= | |
| NM_006918.5:c.540C= MANE Select | NP_008849.2:p.Tyr180= | |
| NM_001024956.3:c.540C= | NP_001020127.1:p.Tyr180= |