Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169586508G>T , CM000663.2:g.169586508G>T | GRCh38 |
| NC_000001.10:g.169555746G>T , CM000663.1:g.169555746G>T | GRCh37 |
| NC_000001.9:g.167822370G>T | NCBI36 |
| NG_011806.1:g.5024C>A , LRG_553:g.5024C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367796.3:c.-122C>A | ENSP00000356770.3:n.-122C>A | |
| ENST00000367797.7:c.-122C>A | ENSP00000356771.3:n.-122C>A | |
| NM_000130.4:c.-122C>A , LRG_553t1:c.-122C>A | NP_000121.2:n.-122C>A | |
| XM_017000660.2:c.-441C>A | XP_016856149.1:n.-441C>A |