Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67482939G>C , CM000673.2:g.67482939G>C | GRCh38 |
| NC_000011.9:g.67250410G>C , CM000673.1:g.67250410G>C | GRCh37 |
| NC_000011.8:g.67006986G>C | NCBI36 |
| NG_008969.1:g.4906G>C , LRG_460:g.4906G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682699.1:c.-220G>C | ENSP00000507935.1:n.-220G>C | |
| XM_024448761.1:c.-220G>C | XP_024304529.1:n.-220G>C |