Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112673921A>C , CM000663.2:g.112673921A>C | GRCh38 |
| NC_000001.10:g.113216543A>C , CM000663.1:g.113216543A>C | GRCh37 |
| NC_000001.9:g.113018066A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486416.1:n.311+470A>C |