HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659248A>T , CM000685.2:g.136659248A>T | GRCh38 |
NC_000023.10:g.135741407A>T , CM000685.1:g.135741407A>T | GRCh37 |
NC_000023.9:g.135569073A>T | NCBI36 |
NG_007280.1:g.16072A>T , LRG_141:g.16072A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*237A>T | ENSP00000512122.1:n.*237A>T | |
ENST00000695725.1:c.*174A>T | ENSP00000512123.1:n.*174A>T | |
ENST00000695726.1:n.2587A>T | ||
ENST00000695729.1:n.3422A>T | ||
ENST00000370629.7:c.619A>T MANE Select | ENSP00000359663.2:p.Arg207Ter | |
ENST00000370628.2:c.556A>T | ENSP00000359662.2:p.Arg186Ter | |
ENST00000370629.6:c.619A>T | ENSP00000359663.2:p.Arg207Ter | |
NM_000074.2:c.619A>T , LRG_141t1:c.619A>T | NP_000065.1:p.Arg207Ter | |
NM_000074.3:c.619A>T MANE Select | NP_000065.1:p.Arg207Ter |