Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.[133526101G>C;133526341C>T] , CM000672.2:g.[133526101G>C;133526341C>T] | GRCh38 |
| NC_000010.10:g.[135339605G>C;135339845C>T] , CM000672.1:g.[135339605G>C;135339845C>T] | GRCh37 |
| NC_000010.9:g.[135189595G>C;135189835C>T] | NCBI36 |
| NG_008383.1:g.[3739G>C;3979C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463117.6:c.[-117-695G>C;-117-455C>T] | ENSP00000440689.1:n.[-117-695G>C;-117-455C>T] | |
| ENST00000541261.1:c.[-118+460G>C;-117-455C>T] | ENSP00000437799.1:n.[-118+460G>C;-117-455C>T] | |
| XR_001747676.2:n.[465G>A;705C>G] |