Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643818G= , CM000682.2:g.10643818G= | GRCh38 |
| NC_000020.10:g.10624466G= , CM000682.1:g.10624466G= | GRCh37 |
| NC_000020.9:g.10572466G= | NCBI36 |
| NG_007496.1:g.35229C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2418C= MANE Select | ENSP00000254958.4:p.Cys806= | |
| ENST00000617965.2:n.3007C= | ||
| ENST00000254958.9:c.2418C= | ENSP00000254958.4:p.Cys806= | |
| ENST00000423891.6:n.2284C= | ||
| NM_000214.2:c.2418C= | NP_000205.1:p.Cys806= | |
| NM_000214.3:c.2418C= MANE Select | NP_000205.1:p.Cys806= |