Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.202849G= , CM000673.2:g.202849G= | GRCh38 |
| NC_000011.9:g.202849G= , CM000673.1:g.202849G= | GRCh37 |
| NC_000011.8:g.192849G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410108.5:c.168+2762C= | ENSP00000386558.1:n.168+2762C= |