Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8900118T>C , CM000670.2:g.8900118T>C | GRCh38 |
| NC_000008.10:g.8757628T>C , CM000670.1:g.8757628T>C | GRCh37 |
| NC_000008.9:g.8795038T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017013949.1:c.-691-3378T>C | XP_016869438.1:n.-691-3378T>C |