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