HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715787G>T , CM000684.2:g.37715787G>T | GRCh38 |
NC_000022.10:g.38111794G>T , CM000684.1:g.38111794G>T | GRCh37 |
NC_000022.9:g.36441740G>T | NCBI36 |
NG_012857.1:g.23800G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.481G>T MANE Select | ENSP00000496394.1:p.Glu161Ter | |
ENST00000344404.10:c.279G>T | ENSP00000340312.6:p.Arg93Ser | |
ENST00000406386.7:c.481G>T | ENSP00000384312.3:p.Glu161Ter | |
ENST00000455236.4:c.1438G>T | ENSP00000477208.1:n.1438G>T | |
ENST00000492485.5:n.415G>T | ||
NM_001039141.2:c.481G>T | NP_001034230.1:p.Glu161Ter | |
NM_001039141.3:c.481G>T MANE Select | NP_001034230.1:p.Glu161Ter |