Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652491C= , CM000682.2:g.10652491C= | GRCh38 |
| NC_000020.10:g.10633139C= , CM000682.1:g.10633139C= | GRCh37 |
| NC_000020.9:g.10581139C= | NCBI36 |
| NG_007496.1:g.26556G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.863G= MANE Select | NP_000205.1:p.Trp288= |
| ENST00000254958.10:c.863G= MANE Select | ENSP00000254958.4:p.Trp288= |
| NM_000214.2:c.863G= | NP_000205.1:p.Trp288= |
| ENST00000254958.9:c.863G= | ENSP00000254958.4:p.Trp288= |
| ENST00000423891.6:n.729G= | |
| ENST00000617965.1:n.232G= | |
| ENST00000617965.2:n.232G= |