HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189062885A>C , CM000664.2:g.189062885A>C | GRCh38 |
NC_000002.11:g.189927611A>C , CM000664.1:g.189927611A>C | GRCh37 |
NC_000002.10:g.189635856A>C | NCBI36 |
NG_011799.1:g.121995T>G | |
NG_011799.2:g.121995T>G | |
NG_011799.3:g.167417T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.1957T>G MANE Select | ENSP00000364000.3:p.Ser653Ala | |
ENST00000374866.7:c.1957T>G | ENSP00000364000.3:p.Ser653Ala | |
ENST00000470524.2:n.63T>G | ||
ENST00000618828.1:c.796T>G | ENSP00000482184.1:p.Ser266Ala | |
NM_000393.3:c.1957T>G | NP_000384.2:p.Ser653Ala | |
XM_011510573.1:c.1819T>G | XP_011508875.1:p.Ser607Ala | |
NM_000393.4:c.1957T>G | NP_000384.2:p.Ser653Ala | |
XM_011510573.3:c.1819T>G | XP_011508875.1:p.Ser607Ala | |
NM_000393.5:c.1957T>G MANE Select | NP_000384.2:p.Ser653Ala |