HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47377210A>G , CM000664.2:g.47377210A>G | GRCh38 |
NC_000002.11:g.47604349A>G , CM000664.1:g.47604349A>G | GRCh37 |
NC_000002.10:g.47457853A>G | NCBI36 |
NG_012352.2:g.37048A>G , LRG_215:g.37048A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.555+133A>G MANE Select | ENSP00000263735.4:n.555+133A>G | |
ENST00000263735.8:c.555+133A>G | ENSP00000263735.4:n.555+133A>G | |
ENST00000405271.5:c.639+133A>G | ENSP00000385476.1:n.639+133A>G | |
ENST00000456133.5:c.639+133A>G | ENSP00000410675.1:n.639+133A>G | |
ENST00000490733.1:n.404+133A>G | ||
NM_002354.2:c.555+133A>G , LRG_215t1:c.555+133A>G | NP_002345.2:n.555+133A>G | |
NM_002354.3:c.555+133A>G MANE Select | NP_002345.2:n.555+133A>G |