Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47376933C>T , CM000664.2:g.47376933C>T | GRCh38 |
| NC_000002.11:g.47604072C>T , CM000664.1:g.47604072C>T | GRCh37 |
| NC_000002.10:g.47457576C>T | NCBI36 |
| NG_012352.2:g.36771C>T , LRG_215:g.36771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.492-81C>T MANE Select | ENSP00000263735.4:n.492-81C>T | |
| ENST00000263735.8:c.492-81C>T | ENSP00000263735.4:n.492-81C>T | |
| ENST00000405271.5:c.576-81C>T | ENSP00000385476.1:n.576-81C>T | |
| ENST00000456133.5:c.576-81C>T | ENSP00000410675.1:n.576-81C>T | |
| ENST00000490733.1:n.341-81C>T | ||
| NM_002354.2:c.492-81C>T , LRG_215t1:c.492-81C>T | NP_002345.2:n.492-81C>T | |
| NM_002354.3:c.492-81C>T MANE Select | NP_002345.2:n.492-81C>T |