HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715791A>T , CM000684.2:g.37715791A>T | GRCh38 |
NC_000022.10:g.38111798A>T , CM000684.1:g.38111798A>T | GRCh37 |
NC_000022.9:g.36441744A>T | NCBI36 |
NG_012857.1:g.23804A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.485A>T MANE Select | ENSP00000496394.1:p.Glu162Val | |
ENST00000344404.10:c.283A>T | ENSP00000340312.6:p.Arg95Trp | |
ENST00000406386.7:c.485A>T | ENSP00000384312.3:p.Glu162Val | |
ENST00000455236.4:c.1442A>T | ENSP00000477208.1:n.1442A>T | |
ENST00000492485.5:n.419A>T | ||
NM_001039141.2:c.485A>T | NP_001034230.1:p.Glu162Val | |
NM_001039141.3:c.485A>T MANE Select | NP_001034230.1:p.Glu162Val |