Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48445644C>T , CM000665.2:g.48445644C>T | GRCh38 |
| NC_000003.11:g.48487048C>T , CM000665.1:g.48487048C>T | GRCh37 |
| NC_000003.10:g.48462052C>T | NCBI36 |
| NG_041782.1:g.3935C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011534113.2:c.-14+615G>A | XP_011532415.1:n.-14+615G>A |