Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40161296G>A , CM000677.2:g.40161296G>A | GRCh38 |
| NC_000015.9:g.40453497G>A , CM000677.1:g.40453497G>A | GRCh37 |
| NC_000015.8:g.38240789G>A | NCBI36 |
| NG_016338.1:g.5288G>A , LRG_489:g.5288G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.35+41G>A MANE Select | NP_001202.5:n.35+41G>A |
| ENST00000287598.11:c.35+41G>A MANE Select | ENSP00000287598.7:n.35+41G>A |
| NM_001211.5:c.35+41G>A , LRG_489t1:c.35+41G>A | NP_001202.4:n.35+41G>A |
| ENST00000287598.10:c.35+41G>A | ENSP00000287598.6:n.35+41G>A |
| ENST00000412359.7:c.35+41G>A | ENSP00000398470.3:n.35+41G>A |
| ENST00000558715.5:c.35+41G>A | ENSP00000453861.1:n.35+41G>A |
| ENST00000559414.5:n.213+41G>A | |
| ENST00000560120.5:n.233+41G>A |