HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022638G>T , CM000663.2:g.17022638G>T | GRCh38 |
NC_000001.10:g.17349133G>T , CM000663.1:g.17349133G>T | GRCh37 |
NC_000001.9:g.17221720G>T | NCBI36 |
NG_012340.1:g.36533C>A , LRG_316:g.36533C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.564C>A | ENSP00000481376.2:p.Thr188= | |
ENST00000491274.6:c.693C>A | ENSP00000480482.2:p.Thr231= | |
ENST00000375499.8:c.735C>A MANE Select | ENSP00000364649.3:p.Thr245= | |
ENST00000375499.7:c.735C>A | ENSP00000364649.3:p.Thr245= | |
ENST00000475049.5:n.160C>A | ||
ENST00000485092.5:n.399C>A | ||
ENST00000485515.5:n.669C>A | ||
NM_003000.2:c.735C>A , LRG_316t1:c.735C>A | NP_002991.2:p.Thr245= | |
NM_003000.3:c.735C>A MANE Select | NP_002991.2:p.Thr245= |