Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55996852A>C , CM000674.2:g.55996852A>C | GRCh38 |
| NC_000012.11:g.56390636A>C , CM000674.1:g.56390636A>C | GRCh37 |
| NC_000012.10:g.54676903A>C | NCBI36 |
| NG_008136.1:g.4594A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017019905.2:c.-775A>C | XP_016875394.1:n.-775A>C | |
| XM_017019907.2:c.-865A>C | XP_016875396.1:n.-865A>C | |
| XM_024449167.1:c.-649A>C | XP_024304935.1:n.-649A>C |