Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32009614C>T , CM000668.2:g.32009614C>T | GRCh38 |
| NC_000006.11:g.31977391C>T , CM000668.1:g.31977391C>T | GRCh37 |
| NC_000006.10:g.32085369C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001284.2:n.2078G>A | |
| ENST00000507684.1:n.1527G>A |