HGVS | Genome Assembly |
---|---|
NC_000001.11:g.218436119C>A , CM000663.2:g.218436119C>A | GRCh38 |
NC_000001.10:g.218609461C>A , CM000663.1:g.218609461C>A | GRCh37 |
NC_000001.9:g.216676084C>A | NCBI36 |
NG_027721.1:g.95786C>A | |
NG_027721.2:g.95786C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366930.9:c.904C>A MANE Select | ENSP00000355897.4:p.Arg302Ser | |
ENST00000366929.4:c.988C>A | ENSP00000355896.4:p.Arg330Ser | |
ENST00000366930.8:c.904C>A | ENSP00000355897.4:p.Arg302Ser | |
ENST00000479322.1:n.388C>A | ||
NM_001135599.2:c.988C>A | NP_001129071.1:p.Arg330Ser | |
NM_003238.3:c.904C>A | NP_003229.1:p.Arg302Ser | |
NM_001135599.3:c.988C>A | NP_001129071.1:p.Arg330Ser | |
NM_003238.4:c.904C>A | NP_003229.1:p.Arg302Ser | |
NR_138148.1:n.2207C>A | ||
NR_138149.1:n.2291C>A | ||
NM_003238.5:c.904C>A | NP_003229.1:p.Arg302Ser | |
NM_003238.6:c.904C>A MANE Select | NP_003229.1:p.Arg302Ser | |
NM_001135599.4:c.988C>A | NP_001129071.1:p.Arg330Ser | |
NR_138148.2:n.2155C>A | ||
NR_138149.2:n.2239C>A |