HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14141613C>A , CM000665.2:g.14141613C>A | GRCh38 |
NC_000003.11:g.14183113C>A , CM000665.1:g.14183113C>A | GRCh37 |
NC_000003.10:g.14158114C>A | NCBI36 |
NG_008975.1:g.21674C>A , LRG_435:g.21674C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432444.2:c.*1051C>A | ENSP00000395617.1:n.*1051C>A | |
ENST00000306077.5:c.1021C>A MANE Select | ENSP00000303992.5:p.Arg341= | |
ENST00000306077.4:c.1021C>A | ENSP00000303992.4:p.Arg341= | |
ENST00000601399.3:n.327+2316C>A | ||
ENST00000608606.1:c.236+2316C>A | ||
NM_024334.2:c.1021C>A , LRG_435t1:c.1021C>A | NP_077310.1:p.Arg341= | |
XM_011534109.1:c.916C>A | XP_011532411.1:p.Arg306= | |
XM_017007176.2:c.916C>A | XP_016862665.1:p.Arg306= | |
NM_024334.3:c.1021C>A MANE Select | NP_077310.1:p.Arg341= |