Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193121961C>T , CM000663.2:g.193121961C>T | GRCh38 |
| NC_000001.10:g.193091091C>T , CM000663.1:g.193091091C>T | GRCh37 |
| NC_000001.9:g.191357714C>T | NCBI36 |
| NG_012691.1:g.5004C>T , LRG_507:g.5004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_024529.4:c.-240C>T , LRG_507t1:c.-240C>T | NP_078805.3:n.-240C>T | |
| XR_001738350.1:n.1696G>A |