HGVS | Genome Assembly |
---|---|
NC_000020.11:g.63349784T>G , CM000682.2:g.63349784T>G | GRCh38 |
NC_000020.10:g.61981136T>G , CM000682.1:g.61981136T>G | GRCh37 |
NC_000020.9:g.61451580T>G | NCBI36 |
NG_011931.1:g.16560A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370263.9:c.1627A>C MANE Select | ENSP00000359285.4:p.Ser543Arg | |
ENST00000370263.8:c.1627A>C | ENSP00000359285.4:p.Ser543Arg | |
ENST00000463705.5:n.2275A>C | ||
ENST00000467563.3:n.1697A>C | ||
ENST00000498043.6:c.1651A>C | ||
ENST00000615287.4:c.1414A>C | ENSP00000483388.1:p.Ser472Arg | |
ENST00000627000.1:c.*1316A>C | ENSP00000486914.1:n.*1316A>C | |
ENST00000630240.1:n.1348A>C | ||
NM_000744.6:c.1627A>C | NP_000735.1:p.Ser543Arg | |
NM_001256573.1:c.1099A>C | NP_001243502.1:p.Ser367Arg | |
NR_046317.1:n.1883A>C | ||
XM_011528524.1:c.1414A>C | XP_011526826.1:p.Ser472Arg | |
XM_017027625.2:c.1099A>C | XP_016883114.1:p.Ser367Arg | |
XM_024451822.1:c.1099A>C | XP_024307590.1:p.Ser367Arg | |
NM_001256573.2:c.1099A>C | NP_001243502.1:p.Ser367Arg | |
NR_046317.2:n.1836A>C | ||
NM_000744.7:c.1627A>C MANE Select | NP_000735.1:p.Ser543Arg |