HGVS | Genome Assembly |
---|---|
NC_000011.10:g.45856137C>A , CM000673.2:g.45856137C>A | GRCh38 |
NC_000011.9:g.45877688C>A , CM000673.1:g.45877688C>A | GRCh37 |
NC_000011.8:g.45834264C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000616080.2:c.324+47C>A MANE Select | ENSP00000484684.1:n.324+47C>A | |
ENST00000417225.6:c.141+47C>A | ENSP00000397419.2:n.141+47C>A | |
ENST00000443527.6:c.387+47C>A | ENSP00000406751.2:n.387+47C>A | |
ENST00000473199.5:n.337+47C>A | ||
ENST00000496571.5:n.384C>A | ||
ENST00000532390.5:n.337+47C>A | ||
ENST00000616080.1:c.324+47C>A | ENSP00000484684.1:n.324+47C>A | |
ENST00000616623.4:c.387+47C>A | ENSP00000478187.1:n.387+47C>A | |
NM_001127457.2:c.141+47C>A | NP_001120929.1:n.141+47C>A | |
NM_021117.3:c.387+47C>A | NP_066940.2:n.387+47C>A | |
NM_021117.4:c.324+47C>A | NP_066940.3:n.324+47C>A | |
NM_021117.5:c.324+47C>A MANE Select | NP_066940.3:n.324+47C>A | |
NM_001127457.3:c.141+47C>A | NP_001120929.1:n.141+47C>A |