Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40209666G>A , CM000677.2:g.40209666G>A | GRCh38 |
| NC_000015.9:g.40501867G>A , CM000677.1:g.40501867G>A | GRCh37 |
| NC_000015.8:g.38289159G>A | NCBI36 |
| NG_016338.1:g.53658G>A , LRG_489:g.53658G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2175G>A MANE Select | NP_001202.5:p.Gln725= |
| ENST00000287598.11:c.2175G>A MANE Select | ENSP00000287598.7:p.Gln725= |
| NM_001211.5:c.2175G>A , LRG_489t1:c.2175G>A | NP_001202.4:p.Gln725= |
| ENST00000287598.10:c.2175G>A | ENSP00000287598.6:p.Gln725= |
| ENST00000412359.7:c.2217G>A | ENSP00000398470.3:p.Gln739= |
| XR_001751506.1:n.218-29465C>T |