HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44290785A>G , CM000683.2:g.44290785A>G | GRCh38 |
NC_000021.8:g.45710668A>G , CM000683.1:g.45710668A>G | GRCh37 |
NC_000021.7:g.44535096A>G | NCBI36 |
NG_009556.1:g.9906A>G , LRG_18:g.9906A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.880-310A>G MANE Select | ENSP00000291582.5:n.880-310A>G | |
ENST00000291582.5:c.880-310A>G | ENSP00000291582.5:n.880-310A>G | |
ENST00000337909.5:n.31A>G | ||
ENST00000397994.8:n.31A>G | ||
ENST00000527919.5:n.1613-313A>G | ||
ENST00000530812.5:n.2630-313A>G | ||
NM_000383.3:c.880-310A>G | NP_000374.1:n.880-310A>G | |
XM_011529551.1:c.880-313A>G | XP_011527853.1:n.880-313A>G | |
NM_000383.4:c.880-310A>G MANE Select | NP_000374.1:n.880-310A>G |