HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942358C>A , CM000672.2:g.94942358C>A | GRCh38 |
NC_000010.10:g.96702115C>A , CM000672.1:g.96702115C>A | GRCh37 |
NC_000010.9:g.96692105C>A | NCBI36 |
NG_008385.1:g.8701C>A | |
NG_008385.2:g.9201C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.481+17C>A MANE Select | ENSP00000260682.6:n.481+17C>A | |
ENST00000643112.1:c.481+17C>A | ENSP00000496202.1:n.481+17C>A | |
ENST00000645207.1:n.634+17C>A | ||
ENST00000260682.6:c.481+17C>A | ENSP00000260682.6:n.481+17C>A | |
ENST00000461906.1:n.523C>A | ||
ENST00000473496.1:n.252+17C>A | ||
NM_000771.3:c.481+17C>A | NP_000762.2:n.481+17C>A | |
NM_000771.4:c.481+17C>A MANE Select | NP_000762.2:n.481+17C>A |