Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652491C>T , CM000682.2:g.10652491C>T | GRCh38 |
| NC_000020.10:g.10633139C>T , CM000682.1:g.10633139C>T | GRCh37 |
| NC_000020.9:g.10581139C>T | NCBI36 |
| NG_007496.1:g.26556G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.863G>A MANE Select | ENSP00000254958.4:p.Trp288Ter | |
| ENST00000617965.2:n.232G>A | ||
| ENST00000254958.9:c.863G>A | ENSP00000254958.4:p.Trp288Ter | |
| ENST00000423891.6:n.729G>A | ||
| ENST00000617965.1:n.232G>A | ||
| NM_000214.2:c.863G>A | NP_000205.1:p.Trp288Ter | |
| NM_000214.3:c.863G>A MANE Select | NP_000205.1:p.Trp288Ter |