Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112318978C>T , CM000672.2:g.112318978C>T | GRCh38 |
| NC_000010.10:g.114078736C>T , CM000672.1:g.114078736C>T | GRCh37 |
| NC_000010.9:g.114068726C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479705.5:n.2245-922G>A | ||
| ENST00000490269.1:n.461-922G>A | ||
| NR_028134.1:n.1994-922G>A |