Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989623C>T , CM000681.2:g.55989623C>T | GRCh38 |
| NC_000019.9:g.56500989C>T , CM000681.1:g.56500989C>T | GRCh37 |
| NC_000019.8:g.61192801C>T | NCBI36 |
| NG_046924.1:g.7841C>T | |
| NG_051553.1:g.46792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2802C>T | XP_011524746.1:n.-72+2802C>T |