Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693049C>G , CM000685.2:g.153693049C>G | GRCh38 |
| NC_000023.10:g.152958504C>G , CM000685.1:g.152958504C>G | GRCh37 |
| NC_000023.9:g.152611698C>G | NCBI36 |
| NG_012016.1:g.9753C>G | |
| NG_012016.2:g.9753C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.786C>G MANE Select | NP_005620.1:p.Tyr262Ter |
| ENST00000253122.10:c.786C>G MANE Select | ENSP00000253122.5:p.Tyr262Ter |
| NM_001142805.1:c.786C>G | NP_001136277.1:p.Tyr262Ter |
| NM_001142805.2:c.786C>G | NP_001136277.1:p.Tyr262Ter |
| NM_001142806.1:c.441C>G | NP_001136278.1:p.Tyr147Ter |
| NM_005629.3:c.786C>G | NP_005620.1:p.Tyr262Ter |
| ENST00000253122.9:c.786C>G | ENSP00000253122.5:p.Tyr262Ter |
| ENST00000430077.6:c.441C>G | ENSP00000403041.2:p.Tyr147Ter |
| ENST00000467402.1:n.146-443C>G | |
| ENST00000485324.1:n.819C>G |