Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90250292A>G , CM000667.2:g.90250292A>G | GRCh38 |
| NC_000005.9:g.89546109A>G , CM000667.1:g.89546109A>G | GRCh37 |
| NC_000005.8:g.89581865A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120601.1:n.269+10254T>C |