HGVS | Genome Assembly |
---|---|
NC_000022.11:g.18925165A>T , CM000684.2:g.18925165A>T | GRCh38 |
NC_000022.10:g.18912678A>T , CM000684.1:g.18912678A>T | GRCh37 |
NC_000022.9:g.17292678A>T | NCBI36 |
NG_008226.3:g.16389T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357068.11:c.553T>A MANE Select | ENSP00000349577.6:p.Trp185Arg | |
ENST00000638240.1:c.513+14137A>T | ENSP00000492446.1:n.513+14137A>T | |
ENST00000334029.6:c.229T>A | ENSP00000334726.2:p.Trp77Arg | |
ENST00000357068.10:c.553T>A | ENSP00000349577.6:p.Trp185Arg | |
ENST00000420436.5:c.229T>A | ENSP00000410805.1:p.Trp77Arg | |
ENST00000438924.5:c.199T>A | ||
ENST00000450579.1:c.76T>A | ENSP00000396806.1:p.Trp26Arg | |
ENST00000457083.1:c.323T>A | ||
ENST00000482858.5:n.408T>A | ||
ENST00000491604.5:n.561T>A | ||
ENST00000496625.1:n.192T>A | ||
ENST00000610940.4:c.553T>A | ENSP00000480347.1:p.Trp185Arg | |
XM_011530278.1:c.45T>A | XP_011528580.1:p.Thr15= | |
XR_937876.1:n.586T>A | ||
NM_001195226.2:c.229T>A | NP_001182155.2:p.Trp77Arg | |
NM_016335.5:c.553T>A | NP_057419.5:p.Trp185Arg | |
NM_016335.6:c.553T>A MANE Select | NP_057419.5:p.Trp185Arg |