HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29495813A>G , CM000679.2:g.29495813A>G | GRCh38 |
NC_000017.10:g.27822831A>G , CM000679.1:g.27822831A>G | GRCh37 |
NC_000017.9:g.24846957A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.999+86A>G MANE Select | ENSP00000261716.3:n.999+86A>G | |
ENST00000261716.7:c.999+86A>G | ENSP00000261716.3:n.999+86A>G | |
ENST00000536202.1:c.999+86A>G | ENSP00000438819.1:n.999+86A>G | |
ENST00000577583.1:n.847+86A>G | ||
NM_020791.2:c.999+86A>G | NP_065842.1:n.999+86A>G | |
NM_025142.1:c.999+86A>G | NP_079418.1:n.999+86A>G | |
XM_011525060.1:c.999+86A>G | XP_011523362.1:n.999+86A>G | |
XM_011525060.2:c.999+86A>G | XP_011523362.1:n.999+86A>G | |
NM_020791.4:c.999+86A>G MANE Select | NP_065842.1:n.999+86A>G |