HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94949090A>G , CM000672.2:g.94949090A>G | GRCh38 |
NC_000010.10:g.96708847A>G , CM000672.1:g.96708847A>G | GRCh37 |
NC_000010.9:g.96698837A>G | NCBI36 |
NG_008385.1:g.15433A>G | |
NG_008385.2:g.15933A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.643-18A>G MANE Select | ENSP00000260682.6:n.643-18A>G | |
ENST00000643112.1:c.643-18A>G | ENSP00000496202.1:n.643-18A>G | |
ENST00000260682.6:c.643-18A>G | ENSP00000260682.6:n.643-18A>G | |
ENST00000473496.1:n.414-18A>G | ||
NM_000771.3:c.643-18A>G | NP_000762.2:n.643-18A>G | |
NM_000771.4:c.643-18A>G MANE Select | NP_000762.2:n.643-18A>G |