Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217445617C>T , CM000664.2:g.217445617C>T | GRCh38 |
| NC_000002.11:g.218310340C>T , CM000664.1:g.218310340C>T | GRCh37 |
| NC_000002.10:g.218018585C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_026597.1:n.1523-11501G>A | |
| NR_026597.2:n.1523-11501G>A | |
| ENST00000474063.5:n.500-11501G>A | |
| ENST00000486365.5:n.1523-11501G>A |