Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159295338C>T , CM000663.2:g.159295338C>T | GRCh38 |
| NC_000001.10:g.159265128C>T , CM000663.1:g.159265128C>T | GRCh37 |
| NC_000001.9:g.157531752C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002001.3:c.-60+5585C>T | NP_001992.1:n.-60+5585C>T |
| NM_002001.4:c.-60+5585C>T | NP_001992.1:n.-60+5585C>T |
| ENST00000368115.5:c.-60+5585C>T | ENSP00000357097.1:n.-60+5585C>T |