Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109287294C>T , CM000668.2:g.109287294C>T | GRCh38 |
| NC_000006.11:g.109608497C>T , CM000668.1:g.109608497C>T | GRCh37 |
| NC_000006.10:g.109715190C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368966.10:n.3773+776C>T | ||
| ENST00000615766.4:n.349+776C>T | ||
| NR_152435.1:n.3744+776C>T |