HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44289927C>G , CM000683.2:g.44289927C>G | GRCh38 |
NC_000021.8:g.45709810C>G , CM000683.1:g.45709810C>G | GRCh37 |
NC_000021.7:g.44534238C>G | NCBI36 |
NG_009556.1:g.9048C>G , LRG_18:g.9048C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.799-61C>G MANE Select | ENSP00000291582.5:n.799-61C>G | |
ENST00000291582.5:c.799-61C>G | ENSP00000291582.5:n.799-61C>G | |
ENST00000527919.5:n.1532-61C>G | ||
ENST00000530812.5:n.2549-61C>G | ||
NM_000383.3:c.799-61C>G | NP_000374.1:n.799-61C>G | |
XM_011529551.1:c.799-61C>G | XP_011527853.1:n.799-61C>G | |
NM_000383.4:c.799-61C>G MANE Select | NP_000374.1:n.799-61C>G |