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