Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648014C>A , CM000682.2:g.10648014C>A | GRCh38 |
| NC_000020.10:g.10628662C>A , CM000682.1:g.10628662C>A | GRCh37 |
| NC_000020.9:g.10576662C>A | NCBI36 |
| NG_007496.1:g.31033G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1666G>T MANE Select | NP_000205.1:p.Glu556Ter |
| ENST00000254958.10:c.1666G>T MANE Select | ENSP00000254958.4:p.Glu556Ter |
| NM_000214.2:c.1666G>T | NP_000205.1:p.Glu556Ter |
| ENST00000254958.9:c.1666G>T | ENSP00000254958.4:p.Glu556Ter |
| ENST00000423891.6:n.1532G>T | |
| ENST00000613518.1:c.15G>T | |
| ENST00000617965.2:n.2255G>T | |
| ENST00000620743.1:n.723G>T | |
| ENST00000622545.1:c.397G>T |