HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445375A>T , CM000673.2:g.2445375A>T | GRCh38 |
NC_000011.9:g.2466605A>T , CM000673.1:g.2466605A>T | GRCh37 |
NC_000011.8:g.2423181A>T | NCBI36 |
NG_008935.1:g.5385A>T , LRG_287:g.5385A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.24-8A>T | ENSP00000434560.2:n.24-8A>T | |
ENST00000646564.2:c.277A>T | ENSP00000495806.2:p.Ile93Phe | |
ENST00000155840.12:c.277A>T MANE Select | ENSP00000155840.2:p.Ile93Phe | |
ENST00000155840.9:c.277A>T | ENSP00000155840.2:p.Ile93Phe | |
ENST00000345015.4:n.54A>T | ||
ENST00000496887.6:c.24-8A>T | ENSP00000434560.1:n.24-8A>T | |
NM_000218.2:c.277A>T , LRG_287t1:c.277A>T | NP_000209.2:p.Ile93Phe | |
NM_000218.3:c.277A>T MANE Select | NP_000209.2:p.Ile93Phe |