Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132350573A>T , CM000667.2:g.132350573A>T | GRCh38 |
| NC_000005.9:g.131686266A>T , CM000667.1:g.131686266A>T | GRCh37 |
| NC_000005.8:g.131714165A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.418-616T>A |