Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223158578A>C , CM000664.2:g.223158578A>C | GRCh38 |
| NC_000002.11:g.224023296A>C , CM000664.1:g.224023296A>C | GRCh37 |
| NC_000002.10:g.223731540A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000488477.2:n.190-34491A>C |