Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377194C>G , CM000664.2:g.47377194C>G | GRCh38 |
| NC_000002.11:g.47604333C>G , CM000664.1:g.47604333C>G | GRCh37 |
| NC_000002.10:g.47457837C>G | NCBI36 |
| NG_012352.2:g.37032C>G , LRG_215:g.37032C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.555+117C>G MANE Select | ENSP00000263735.4:n.555+117C>G | |
| ENST00000263735.8:c.555+117C>G | ENSP00000263735.4:n.555+117C>G | |
| ENST00000405271.5:c.639+117C>G | ENSP00000385476.1:n.639+117C>G | |
| ENST00000456133.5:c.639+117C>G | ENSP00000410675.1:n.639+117C>G | |
| ENST00000490733.1:n.404+117C>G | ||
| NM_002354.2:c.555+117C>G , LRG_215t1:c.555+117C>G | NP_002345.2:n.555+117C>G | |
| NM_002354.3:c.555+117C>G MANE Select | NP_002345.2:n.555+117C>G |