HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98187047A>G , CM000669.2:g.98187047A>G | GRCh38 |
NC_000007.13:g.97816359A>G , CM000669.1:g.97816359A>G | GRCh37 |
NC_000007.12:g.97654295A>G | NCBI36 |
NG_013375.1:g.85163A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297293.6:c.998+49A>G MANE Select | ENSP00000297293.5:n.998+49A>G | |
ENST00000297293.5:c.998+49A>G | ENSP00000297293.5:n.998+49A>G | |
NM_014916.3:c.998+49A>G | NP_055731.2:n.998+49A>G | |
XM_011515981.1:c.992+49A>G | XP_011514283.1:n.992+49A>G | |
XM_011515981.3:c.992+49A>G | XP_011514283.1:n.992+49A>G | |
NM_014916.4:c.998+49A>G MANE Select | NP_055731.2:n.998+49A>G |