HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189062912G>T , CM000664.2:g.189062912G>T | GRCh38 |
NC_000002.11:g.189927638G>T , CM000664.1:g.189927638G>T | GRCh37 |
NC_000002.10:g.189635883G>T | NCBI36 |
NG_011799.1:g.121968C>A | |
NG_011799.2:g.121968C>A | |
NG_011799.3:g.167390C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.1930C>A MANE Select | ENSP00000364000.3:p.Pro644Thr | |
ENST00000374866.7:c.1930C>A | ENSP00000364000.3:p.Pro644Thr | |
ENST00000470524.2:n.36C>A | ||
ENST00000618828.1:c.769C>A | ENSP00000482184.1:p.Pro257Thr | |
NM_000393.3:c.1930C>A | NP_000384.2:p.Pro644Thr | |
XM_011510573.1:c.1792C>A | XP_011508875.1:p.Pro598Thr | |
NM_000393.4:c.1930C>A | NP_000384.2:p.Pro644Thr | |
XM_011510573.3:c.1792C>A | XP_011508875.1:p.Pro598Thr | |
NM_000393.5:c.1930C>A MANE Select | NP_000384.2:p.Pro644Thr |