HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189098738G>A , CM000664.2:g.189098738G>A | GRCh38 |
NC_000002.11:g.189963464G>A , CM000664.1:g.189963464G>A | GRCh37 |
NC_000002.10:g.189671709G>A | NCBI36 |
NG_011799.1:g.86142C>T | |
NG_011799.2:g.86142C>T | |
NG_011799.3:g.131564C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.391C>T MANE Select | ENSP00000364000.3:p.Pro131Ser | |
ENST00000649966.1:c.253C>T | ENSP00000496785.1:p.Pro85Ser | |
ENST00000374866.7:c.391C>T | ENSP00000364000.3:p.Pro131Ser | |
ENST00000618828.1:c.-240C>T | ENSP00000482184.1:n.-240C>T | |
NM_000393.3:c.391C>T | NP_000384.2:p.Pro131Ser | |
XM_011510573.1:c.253C>T | XP_011508875.1:p.Pro85Ser | |
NM_000393.4:c.391C>T | NP_000384.2:p.Pro131Ser | |
XM_011510573.3:c.253C>T | XP_011508875.1:p.Pro85Ser | |
NM_000393.5:c.391C>T MANE Select | NP_000384.2:p.Pro131Ser |