Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33620370C>G , CM000668.2:g.33620370C>G | GRCh38 |
| NC_000006.11:g.33588147C>G , CM000668.1:g.33588147C>G | GRCh37 |
| NC_000006.10:g.33696125C>G | NCBI36 |
| NG_027729.1:g.3992C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000374316.9:c.-1055C>G | ENSP00000363435.4:n.-1055C>G |