Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47269208A>C , CM000673.2:g.47269208A>C | GRCh38 |
| NC_000011.9:g.47290759A>C , CM000673.1:g.47290759A>C | GRCh37 |
| NC_000011.8:g.47247335A>C | NCBI36 |
| NG_029462.1:g.4833A>C | |
| NG_030392.1:g.25909A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001376651.1:c.-164A>C | NP_001363580.1:n.-164A>C |
| ENST00000453571.5:c.-164A>C | ENSP00000388255.1:n.-164A>C |