HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413120C>G , CM000665.2:g.147413120C>G | GRCh38 |
NC_000003.11:g.147130907C>G , CM000665.1:g.147130907C>G | GRCh37 |
NC_000003.10:g.148613597C>G | NCBI36 |
NG_015886.1:g.8727C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1147-234C>G MANE Select | ENSP00000282928.4:n.1147-234C>G | |
ENST00000282928.4:c.1147-234C>G | ENSP00000282928.4:n.1147-234C>G | |
ENST00000472523.1:n.521+19178C>G | ||
ENST00000488404.5:c.213-234C>G | ||
NM_003412.3:c.1147-234C>G | NP_003403.2:n.1147-234C>G | |
NM_003412.4:c.1147-234C>G MANE Select | NP_003403.2:n.1147-234C>G |