HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44296448A>G , CM000683.2:g.44296448A>G | GRCh38 |
NC_000021.8:g.45716331A>G , CM000683.1:g.45716331A>G | GRCh37 |
NC_000021.7:g.44540759A>G | NCBI36 |
NG_009556.1:g.15569A>G , LRG_18:g.15569A>G | |
NG_034033.1:g.1415A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000291582.6:c.1566+3A>G MANE Select | ENSP00000291582.5:n.1566+3A>G | |
ENST00000291582.5:c.1566+3A>G | ENSP00000291582.5:n.1566+3A>G | |
ENST00000337909.5:n.1027+3A>G | ||
ENST00000397994.8:n.945+3A>G | ||
ENST00000527919.5:n.2325+3A>G | ||
ENST00000530812.5:n.3313+3A>G | ||
NM_000383.3:c.1566+3A>G | NP_000374.1:n.1566+3A>G | |
XM_011529551.1:c.1563+3A>G | XP_011527853.1:n.1563+3A>G | |
NM_000383.4:c.1566+3A>G MANE Select | NP_000374.1:n.1566+3A>G |