Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5711192C>T , CM000666.2:g.5711192C>T | GRCh38 |
| NC_000004.11:g.5712919C>T , CM000666.1:g.5712919C>T | GRCh37 |
| NC_000004.10:g.5763820C>T | NCBI36 |
| NG_008843.1:g.4996C>T | |
| NG_015821.1:g.3357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006713865.2:c.-189C>T | XP_006713928.1:n.-189C>T | |
| XM_006713866.2:c.-189C>T | XP_006713929.1:n.-189C>T | |
| XM_011513419.1:c.-189C>T | XP_011511721.1:n.-189C>T | |
| XR_427473.2:n.2C>T | ||
| XR_427475.2:n.2C>T | ||
| XR_427476.2:n.2C>T | ||
| XR_924920.1:n.2C>T | ||
| XR_924921.1:n.2C>T | ||
| XR_924922.1:n.2C>T | ||
| XR_924923.1:n.2C>T | ||
| XR_924924.1:n.2C>T | ||
| XR_924925.1:n.2C>T | ||
| XR_924926.1:n.2C>T | ||
| XR_924927.1:n.2C>T | ||
| XR_924928.1:n.4C>T |