Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85693120C= , CM000664.2:g.85693120C= | GRCh38 |
| NC_000002.11:g.85920243C= , CM000664.1:g.85920243C= | GRCh37 |
| NC_000002.10:g.85773754C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488945.5:n.48-2200C= |