Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475546T>G , CM000673.2:g.113475546T>G | GRCh38 |
| NC_000011.9:g.113346268T>G , CM000673.1:g.113346268T>G | GRCh37 |
| NC_000011.8:g.112851478T>G | NCBI36 |
| NG_008841.1:g.4734A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540600.5:n.34+112A>C | ||
| XR_948024.2:n.896A>C |