Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377251C>T , CM000664.2:g.47377251C>T | GRCh38 |
| NC_000002.11:g.47604390C>T , CM000664.1:g.47604390C>T | GRCh37 |
| NC_000002.10:g.47457894C>T | NCBI36 |
| NG_012352.2:g.37089C>T , LRG_215:g.37089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.555+174C>T MANE Select | ENSP00000263735.4:n.555+174C>T | |
| ENST00000263735.8:c.555+174C>T | ENSP00000263735.4:n.555+174C>T | |
| ENST00000405271.5:c.639+174C>T | ENSP00000385476.1:n.639+174C>T | |
| ENST00000456133.5:c.639+174C>T | ENSP00000410675.1:n.639+174C>T | |
| ENST00000490733.1:n.404+174C>T | ||
| NM_002354.2:c.555+174C>T , LRG_215t1:c.555+174C>T | NP_002345.2:n.555+174C>T | |
| NM_002354.3:c.555+174C>T MANE Select | NP_002345.2:n.555+174C>T |