Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99850276C>T , CM000663.2:g.99850276C>T | GRCh38 |
| NC_000001.10:g.100315832C>T , CM000663.1:g.100315832C>T | GRCh37 |
| NC_000001.9:g.100088420C>T | NCBI36 |
| NG_012865.1:g.5193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.7:c.-208C>T | ENSP00000355106.3:n.-208C>T | |
| NM_000642.2:c.-208C>T | NP_000633.2:n.-208C>T | |
| XM_005270557.1:c.-69+175C>T | XP_005270614.1:n.-69+175C>T | |
| XM_005270557.2:c.-69+175C>T | XP_005270614.1:n.-69+175C>T |