Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169586584T>C , CM000663.2:g.169586584T>C | GRCh38 |
| NC_000001.10:g.169555822T>C , CM000663.1:g.169555822T>C | GRCh37 |
| NC_000001.9:g.167822446T>C | NCBI36 |
| NG_011806.1:g.4948A>G , LRG_553:g.4948A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367796.3:c.-198A>G | ENSP00000356770.3:n.-198A>G | |
| ENST00000367797.7:c.-198A>G | ENSP00000356771.3:n.-198A>G | |
| XM_017000660.2:c.-517A>G | XP_016856149.1:n.-517A>G |