HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024070C>T , CM000663.2:g.17024070C>T | GRCh38 |
NC_000001.10:g.17350565C>T , CM000663.1:g.17350565C>T | GRCh37 |
NC_000001.9:g.17223152C>T | NCBI36 |
NG_012340.1:g.35101G>A , LRG_316:g.35101G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.374G>A | ENSP00000481376.2:p.Gly125Glu | |
ENST00000491274.6:c.503G>A | ENSP00000480482.2:p.Gly168Glu | |
ENST00000375499.8:c.545G>A MANE Select | ENSP00000364649.3:p.Gly182Glu | |
ENST00000375499.7:c.545G>A | ENSP00000364649.3:p.Gly182Glu | |
ENST00000485515.5:n.479G>A | ||
ENST00000491274.5:c.503G>A | ENSP00000480482.1:p.Gly168Glu | |
NM_003000.2:c.545G>A , LRG_316t1:c.545G>A | NP_002991.2:p.Gly182Glu | |
NM_003000.3:c.545G>A MANE Select | NP_002991.2:p.Gly182Glu |