HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659236A>T , CM000685.2:g.136659236A>T | GRCh38 |
NC_000023.10:g.135741395A>T , CM000685.1:g.135741395A>T | GRCh37 |
NC_000023.9:g.135569061A>T | NCBI36 |
NG_007280.1:g.16060A>T , LRG_141:g.16060A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*225A>T | ENSP00000512122.1:n.*225A>T | |
ENST00000695725.1:c.*162A>T | ENSP00000512123.1:n.*162A>T | |
ENST00000695726.1:n.2575A>T | ||
ENST00000695729.1:n.3410A>T | ||
ENST00000370629.7:c.607A>T MANE Select | ENSP00000359663.2:p.Arg203Ter | |
ENST00000370628.2:c.544A>T | ENSP00000359662.2:p.Arg182Ter | |
ENST00000370629.6:c.607A>T | ENSP00000359663.2:p.Arg203Ter | |
NM_000074.2:c.607A>T , LRG_141t1:c.607A>T | NP_000065.1:p.Arg203Ter | |
NM_000074.3:c.607A>T MANE Select | NP_000065.1:p.Arg203Ter |