Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475537T>G , CM000673.2:g.113475537T>G | GRCh38 |
| NC_000011.9:g.113346259T>G , CM000673.1:g.113346259T>G | GRCh37 |
| NC_000011.8:g.112851469T>G | NCBI36 |
| NG_008841.1:g.4743A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540600.5:n.34+121A>C | ||
| XR_948024.2:n.905A>C |