Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38490214C>T , CM000666.2:g.38490214C>T | GRCh38 |
| NC_000004.11:g.38491835C>T , CM000666.1:g.38491835C>T | GRCh37 |
| NC_000004.10:g.38168230C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110951.1:n.184+3779G>A |