HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102846930C>T , CM000674.2:g.102846930C>T | GRCh38 |
NC_000012.11:g.103240708C>T , CM000674.1:g.103240708C>T | GRCh37 |
NC_000012.10:g.101764838C>T | NCBI36 |
NG_008690.1:g.75673G>A | |
NG_008690.2:g.116481G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.934G>A MANE Select | ENSP00000448059.1:p.Gly312Ser | |
ENST00000307000.7:c.919G>A | ENSP00000303500.2:p.Gly307Ser | |
ENST00000549247.6:n.693G>A | ||
ENST00000551114.2:n.596G>A | ||
ENST00000553106.5:c.934G>A | ENSP00000448059.1:p.Gly312Ser | |
ENST00000635477.1:c.74-2499G>A | ||
ENST00000635528.1:n.449G>A | ||
NM_000277.1:c.934G>A | NP_000268.1:p.Gly312Ser | |
XM_011538422.1:c.913-2499G>A | XP_011536724.1:n.913-2499G>A | |
NM_000277.2:c.934G>A | NP_000268.1:p.Gly312Ser | |
NM_001354304.1:c.934G>A | NP_001341233.1:p.Gly312Ser | |
NM_000277.3:c.934G>A MANE Select | NP_000268.1:p.Gly312Ser | |
NM_001354304.2:c.934G>A | NP_001341233.1:p.Gly312Ser |