HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978541G>A , CM000667.2:g.149978541G>A | GRCh38 |
NC_000005.9:g.149358104G>A , CM000667.1:g.149358104G>A | GRCh37 |
NC_000005.8:g.149338297G>A | NCBI36 |
NG_007147.2:g.19659G>A , LRG_684:g.19659G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.1121G>A | ||
ENST00000286298.5:c.699+190G>A MANE Select | ENSP00000286298.4:n.699+190G>A | |
ENST00000286298.4:c.699+190G>A | ENSP00000286298.4:n.699+190G>A | |
ENST00000503336.1:c.372+190G>A | ENSP00000426053.1:n.372+190G>A | |
NM_000112.3:c.699+190G>A , LRG_684t1:c.699+190G>A | NP_000103.2:n.699+190G>A | |
XM_017009191.2:c.699+190G>A | XP_016864680.1:n.699+190G>A | |
NM_000112.4:c.699+190G>A MANE Select | NP_000103.2:n.699+190G>A |