Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11577916C= , CM000670.2:g.11577916C= | GRCh38 |
| NC_000008.10:g.11435425C= , CM000670.1:g.11435425C= | GRCh37 |
| NC_000008.9:g.11472834C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_040035.1:n.784-454C= |