Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31096273A>G , CM000678.2:g.31096273A>G | GRCh38 |
| NC_000016.9:g.31107594A>G , CM000678.1:g.31107594A>G | GRCh37 |
| NC_000016.8:g.31015095A>G | NCBI36 |
| NG_011564.1:g.3683T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_950848.1:n.16+49T>C |