Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.101327270A>G , CM000668.2:g.101327270A>G | GRCh38 |
| NC_000006.11:g.101775146A>G , CM000668.1:g.101775146A>G | GRCh37 |
| NC_000006.10:g.101881867A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000421544.6:c.-293-71715A>G | ENSP00000397026.1:n.-293-71715A>G |
| ENST00000682090.1:c.-293-71715A>G | ENSP00000508130.1:n.-293-71715A>G |
| ENST00000683774.1:n.233-13272A>G |