HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978532T>A , CM000667.2:g.149978532T>A | GRCh38 |
NC_000005.9:g.149358095T>A , CM000667.1:g.149358095T>A | GRCh37 |
NC_000005.8:g.149338288T>A | NCBI36 |
NG_007147.2:g.19650T>A , LRG_684:g.19650T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.1112T>A | ||
ENST00000286298.5:c.699+181T>A MANE Select | ENSP00000286298.4:n.699+181T>A | |
ENST00000286298.4:c.699+181T>A | ENSP00000286298.4:n.699+181T>A | |
ENST00000503336.1:c.372+181T>A | ENSP00000426053.1:n.372+181T>A | |
NM_000112.3:c.699+181T>A , LRG_684t1:c.699+181T>A | NP_000103.2:n.699+181T>A | |
XM_017009191.2:c.699+181T>A | XP_016864680.1:n.699+181T>A | |
NM_000112.4:c.699+181T>A MANE Select | NP_000103.2:n.699+181T>A |