Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217445621G>T , CM000664.2:g.217445621G>T | GRCh38 |
| NC_000002.11:g.218310344G>T , CM000664.1:g.218310344G>T | GRCh37 |
| NC_000002.10:g.218018589G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474063.5:n.500-11505C>A | ||
| ENST00000486365.5:n.1523-11505C>A | ||
| NR_026597.1:n.1523-11505C>A | ||
| NR_026597.2:n.1523-11505C>A |