Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709771C>T , CM000681.2:g.6709771C>T | GRCh38 |
| NC_000019.9:g.6709782C>T , CM000681.1:g.6709782C>T | GRCh37 |
| NC_000019.8:g.6660782C>T | NCBI36 |
| NG_009557.1:g.15881G>A , LRG_27:g.15881G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1758G>A MANE Select | NP_000055.2:p.Glu586= |
| ENST00000245907.11:c.1758G>A MANE Select | ENSP00000245907.4:p.Glu586= |
| NM_000064.3:c.1758G>A | NP_000055.2:p.Glu586= |
| ENST00000245907.10:c.1758G>A | ENSP00000245907.4:p.Glu586= |
| ENST00000600763.1:n.391G>A | |
| ENST00000695652.1:c.1635G>A | ENSP00000512083.1:p.Glu545= |
| ENST00000695654.1:c.882G>A | ENSP00000512085.1:p.Glu294= |
| ENST00000695655.1:c.699G>A | ENSP00000512086.1:n.699G>A |
| ENST00000695692.1:n.1122G>A |