HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17356265A>G , CM000663.2:g.17356265A>G | GRCh38 |
NC_000001.10:g.17682760A>G , CM000663.1:g.17682760A>G | GRCh37 |
NC_000001.9:g.17555347A>G | NCBI36 |
NG_023261.2:g.53076A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375448.4:c.1456-92A>G MANE Select | ENSP00000364597.4:n.1456-92A>G | |
ENST00000467001.1:n.357-92A>G | ||
ENST00000487048.5:n.423-92A>G | ||
NM_012387.2:c.1456-92A>G | NP_036519.2:n.1456-92A>G | |
XM_011541150.1:c.1270-92A>G | XP_011539452.1:n.1270-92A>G | |
XM_011541151.1:c.1156-92A>G | XP_011539453.1:n.1156-92A>G | |
XM_011541152.1:c.919-92A>G | XP_011539454.1:n.919-92A>G | |
XM_011541157.1:c.565-92A>G | XP_011539459.1:n.565-92A>G | |
NM_012387.3:c.1456-92A>G MANE Select | NP_036519.2:n.1456-92A>G |