HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110602083C>G , CM000672.2:g.110602083C>G | GRCh38 |
NC_000010.10:g.112361841C>G , CM000672.1:g.112361841C>G | GRCh37 |
NC_000010.9:g.112351831C>G | NCBI36 |
NG_012217.1:g.39393C>G , LRG_774:g.39393C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5243C>G | ||
ENST00000685743.1:n.2718C>G | ||
ENST00000686057.1:n.1361C>G | ||
ENST00000689321.1:n.1973C>G | ||
ENST00000689986.1:n.799C>G | ||
ENST00000361804.5:c.3010C>G MANE Select | ENSP00000354720.5:p.Gln1004Glu | |
ENST00000361804.4:c.3010C>G | ENSP00000354720.4:p.Gln1004Glu | |
NM_005445.3:c.3010C>G , LRG_774t1:c.3010C>G | NP_005436.1:p.Gln1004Glu | |
NM_005445.4:c.3010C>G MANE Select | NP_005436.1:p.Gln1004Glu |