HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189062915C>T , CM000664.2:g.189062915C>T | GRCh38 |
NC_000002.11:g.189927641C>T , CM000664.1:g.189927641C>T | GRCh37 |
NC_000002.10:g.189635886C>T | NCBI36 |
NG_011799.1:g.121965G>A | |
NG_011799.2:g.121965G>A | |
NG_011799.3:g.167387G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.1927G>A MANE Select | ENSP00000364000.3:p.Ala643Thr | |
ENST00000374866.7:c.1927G>A | ENSP00000364000.3:p.Ala643Thr | |
ENST00000470524.2:n.33G>A | ||
ENST00000618828.1:c.766G>A | ENSP00000482184.1:p.Ala256Thr | |
NM_000393.3:c.1927G>A | NP_000384.2:p.Ala643Thr | |
XM_011510573.1:c.1789G>A | XP_011508875.1:p.Ala597Thr | |
NM_000393.4:c.1927G>A | NP_000384.2:p.Ala643Thr | |
XM_011510573.3:c.1789G>A | XP_011508875.1:p.Ala597Thr | |
NM_000393.5:c.1927G>A MANE Select | NP_000384.2:p.Ala643Thr |