Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170597G>A , CM000677.2:g.40170597G>A | GRCh38 |
| NC_000015.9:g.40462798G>A , CM000677.1:g.40462798G>A | GRCh37 |
| NC_000015.8:g.38250090G>A | NCBI36 |
| NG_016338.1:g.14589G>A , LRG_489:g.14589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.300G>A MANE Select | ENSP00000287598.7:p.Thr100= | |
| ENST00000287598.10:c.300G>A | ENSP00000287598.6:p.Thr100= | |
| ENST00000412359.7:c.342G>A | ENSP00000398470.3:p.Thr114= | |
| ENST00000558715.5:c.*133G>A | ENSP00000453861.1:n.*133G>A | |
| ENST00000559414.5:n.452+26G>A | ||
| ENST00000560120.5:n.354G>A | ||
| NM_001211.5:c.300G>A , LRG_489t1:c.300G>A | NP_001202.4:p.Thr100= | |
| NM_001211.6:c.300G>A MANE Select | NP_001202.5:p.Thr100= |