HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189058878G>T , CM000664.2:g.189058878G>T | GRCh38 |
NC_000002.11:g.189923604G>T , CM000664.1:g.189923604G>T | GRCh37 |
NC_000002.10:g.189631849G>T | NCBI36 |
NG_011799.1:g.126002C>A | |
NG_011799.2:g.126002C>A | |
NG_011799.3:g.171424C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.2101C>A MANE Select | ENSP00000364000.3:p.Pro701Thr | |
ENST00000374866.7:c.2101C>A | ENSP00000364000.3:p.Pro701Thr | |
ENST00000470524.2:n.207C>A | ||
ENST00000618828.1:c.940C>A | ENSP00000482184.1:p.Pro314Thr | |
NM_000393.3:c.2101C>A | NP_000384.2:p.Pro701Thr | |
XM_011510573.1:c.1963C>A | XP_011508875.1:p.Pro655Thr | |
NM_000393.4:c.2101C>A | NP_000384.2:p.Pro701Thr | |
XM_011510573.3:c.1963C>A | XP_011508875.1:p.Pro655Thr | |
NM_000393.5:c.2101C>A MANE Select | NP_000384.2:p.Pro701Thr |