Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159288665A>C , CM000663.2:g.159288665A>C | GRCh38 |
| NC_000001.10:g.159258455A>C , CM000663.1:g.159258455A>C | GRCh37 |
| NC_000001.9:g.157525079A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_002001.3:c.-97-1051A>C | NP_001992.1:n.-97-1051A>C | |
| NM_002001.4:c.-97-1051A>C | NP_001992.1:n.-97-1051A>C |