Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475443G= , CM000673.2:g.113475443G= | GRCh38 |
| NC_000011.9:g.113346165G= , CM000673.1:g.113346165G= | GRCh37 |
| NC_000011.8:g.112851375G= | NCBI36 |
| NG_008841.1:g.4837C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540600.5:n.34+215C= |