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