Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215766643C>T , CM000664.2:g.215766643C>T | GRCh38 |
| NC_000002.11:g.216631366C>T , CM000664.1:g.216631366C>T | GRCh37 |
| NC_000002.10:g.216339611C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037195.1:n.212-16226G>A |