HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47881875A>C , CM000681.2:g.47881875A>C | GRCh38 |
NC_000019.9:g.48385132A>C , CM000681.1:g.48385132A>C | GRCh37 |
NC_000019.8:g.53076944A>C | NCBI36 |
NG_016745.1:g.9523T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222002.4:c.472+209T>G MANE Select | ENSP00000222002.2:n.472+209T>G | |
ENST00000222002.3:c.472+209T>G | ENSP00000222002.2:n.472+209T>G | |
NM_003167.3:c.472+209T>G | NP_003158.2:n.472+209T>G | |
NM_003167.4:c.472+209T>G MANE Select | NP_003158.2:n.472+209T>G |