Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46417451G= , CM000665.2:g.46417451G= | GRCh38 |
| NC_000003.11:g.46458942G= , CM000665.1:g.46458942G= | GRCh37 |
| NC_000003.10:g.46433946G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_151704.1:n.2100C= | |
| XR_940807.1:n.3271C= | |
| XR_940808.1:n.1676-991C= | |
| XR_940809.1:n.1675+2066C= | |
| XR_940810.1:n.2525C= | |
| XR_940811.1:n.4414C= | |
| XR_940812.1:n.3222C= |