Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5711198C>T , CM000666.2:g.5711198C>T | GRCh38 |
| NC_000004.11:g.5712925C>T , CM000666.1:g.5712925C>T | GRCh37 |
| NC_000004.10:g.5763826C>T | NCBI36 |
| NG_008843.1:g.5002C>T | |
| NG_015821.1:g.3351G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.10:c.-183C>T | ENSP00000264956.6:n.-183C>T | |
| NM_001306090.1:c.-183C>T | NP_001293019.1:n.-183C>T | |
| NM_001306092.1:c.-183C>T | NP_001293021.1:n.-183C>T | |
| NM_153717.2:c.-183C>T | NP_714928.1:n.-183C>T | |
| XM_006713865.2:c.-183C>T | XP_006713928.1:n.-183C>T | |
| XM_006713866.2:c.-183C>T | XP_006713929.1:n.-183C>T | |
| XM_011513419.1:c.-183C>T | XP_011511721.1:n.-183C>T | |
| XR_427473.2:n.8C>T | ||
| XR_427475.2:n.8C>T | ||
| XR_427476.2:n.8C>T | ||
| XR_924920.1:n.8C>T | ||
| XR_924921.1:n.8C>T | ||
| XR_924922.1:n.8C>T | ||
| XR_924923.1:n.8C>T | ||
| XR_924924.1:n.8C>T | ||
| XR_924925.1:n.8C>T | ||
| XR_924926.1:n.8C>T | ||
| XR_924927.1:n.8C>T | ||
| XR_924928.1:n.10C>T |