Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039452G>C , CM000663.2:g.55039452G>C | GRCh38 |
| NC_000001.10:g.55505125G>C , CM000663.1:g.55505125G>C | GRCh37 |
| NC_000001.9:g.55277713G>C | NCBI36 |
| NG_009061.1:g.4906G>C , LRG_275:g.4906G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673726.1:c.-386G>C | ENSP00000501004.1:n.-386G>C |