HGVS | Genome Assembly |
---|---|
NC_000006.12:g.138414280G>A , CM000668.2:g.138414280G>A | GRCh38 |
NC_000006.11:g.138735417G>A , CM000668.1:g.138735417G>A | GRCh37 |
NC_000006.10:g.138777110G>A | NCBI36 |
NG_050594.1:g.15082G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000607197.6:c.*1202G>A MANE Select | ENSP00000475750.1:n.*1202G>A | |
ENST00000607197.5:c.*1202G>A | ENSP00000475750.1:n.*1202G>A | |
XR_942368.1:n.967-918G>A | ||
NM_014320.3:c.*1202G>A MANE Select | NP_055135.1:n.*1202G>A | |
NM_001326381.2:c.*1351G>A | NP_001313310.1:n.*1351G>A | |
NM_001326380.2:c.*1202G>A | NP_001313309.1:n.*1202G>A |