HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110602163G>A , CM000672.2:g.110602163G>A | GRCh38 |
NC_000010.10:g.112361921G>A , CM000672.1:g.112361921G>A | GRCh37 |
NC_000010.9:g.112351911G>A | NCBI36 |
NG_012217.1:g.39473G>A , LRG_774:g.39473G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.5323G>A | ||
ENST00000685743.1:n.2798G>A | ||
ENST00000686057.1:n.1441G>A | ||
ENST00000689321.1:n.2053G>A | ||
ENST00000689986.1:n.879G>A | ||
ENST00000361804.5:c.3090G>A MANE Select | ENSP00000354720.5:p.Gln1030= | |
ENST00000361804.4:c.3090G>A | ENSP00000354720.4:p.Gln1030= | |
NM_005445.3:c.3090G>A , LRG_774t1:c.3090G>A | NP_005436.1:p.Gln1030= | |
NM_005445.4:c.3090G>A MANE Select | NP_005436.1:p.Gln1030= |