gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159288662C>T , CM000663.2:g.159288662C>T | GRCh38 |
| NC_000001.10:g.159258452C>T , CM000663.1:g.159258452C>T | GRCh37 |
| NC_000001.9:g.157525076C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_002001.3:c.-97-1054C>T | NP_001992.1:n.-97-1054C>T | |
| NM_002001.4:c.-97-1054C>T | NP_001992.1:n.-97-1054C>T |