HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445386G>A , CM000673.2:g.2445386G>A | GRCh38 |
NC_000011.9:g.2466616G>A , CM000673.1:g.2466616G>A | GRCh37 |
NC_000011.8:g.2423192G>A | NCBI36 |
NG_008935.1:g.5396G>A , LRG_287:g.5396G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.27G>A | ENSP00000434560.2:p.Thr9= | |
ENST00000646564.2:c.288G>A | ENSP00000495806.2:p.Thr96= | |
ENST00000155840.12:c.288G>A MANE Select | ENSP00000155840.2:p.Thr96= | |
ENST00000155840.9:c.288G>A | ENSP00000155840.2:p.Thr96= | |
ENST00000345015.4:n.65G>A | ||
ENST00000496887.6:c.27G>A | ENSP00000434560.1:p.Thr9= | |
NM_000218.2:c.288G>A , LRG_287t1:c.288G>A | NP_000209.2:p.Thr96= | |
NM_000218.3:c.288G>A MANE Select | NP_000209.2:p.Thr96= |