Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169586581C>G , CM000663.2:g.169586581C>G | GRCh38 |
| NC_000001.10:g.169555819C>G , CM000663.1:g.169555819C>G | GRCh37 |
| NC_000001.9:g.167822443C>G | NCBI36 |
| NG_011806.1:g.4951G>C , LRG_553:g.4951G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367796.3:c.-195G>C | ENSP00000356770.3:n.-195G>C | |
| ENST00000367797.7:c.-195G>C | ENSP00000356771.3:n.-195G>C | |
| XM_017000660.2:c.-514G>C | XP_016856149.1:n.-514G>C |