Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40208785C>T , CM000677.2:g.40208785C>T | GRCh38 |
| NC_000015.9:g.40500986C>T , CM000677.1:g.40500986C>T | GRCh37 |
| NC_000015.8:g.38288278C>T | NCBI36 |
| NG_016338.1:g.52777C>T , LRG_489:g.52777C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2143+15C>T MANE Select | NP_001202.5:n.2143+15C>T |
| ENST00000287598.11:c.2143+15C>T MANE Select | ENSP00000287598.7:n.2143+15C>T |
| NM_001211.5:c.2143+15C>T , LRG_489t1:c.2143+15C>T | NP_001202.4:n.2143+15C>T |
| ENST00000287598.10:c.2143+15C>T | ENSP00000287598.6:n.2143+15C>T |
| ENST00000412359.7:c.2185+15C>T | ENSP00000398470.3:n.2185+15C>T |
| XR_001751506.1:n.218-28584G>A |