HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2583368G>A , CM000673.2:g.2583368G>A | GRCh38 |
NC_000011.9:g.2604598G>A , CM000673.1:g.2604598G>A | GRCh37 |
NC_000011.8:g.2561174G>A | NCBI36 |
NG_008935.1:g.143378G>A , LRG_287:g.143378G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.661-67G>A | ENSP00000434560.2:n.661-67G>A | |
ENST00000646564.2:c.478-67G>A | ENSP00000495806.2:n.478-67G>A | |
ENST00000155840.12:c.922-67G>A MANE Select | ENSP00000155840.2:n.922-67G>A | |
ENST00000335475.6:c.541-67G>A | ENSP00000334497.5:n.541-67G>A | |
ENST00000646564.1:c.124-67G>A | ENSP00000495806.1:n.124-67G>A | |
ENST00000155840.9:c.922-67G>A | ENSP00000155840.2:n.922-67G>A | |
ENST00000335475.5:c.541-67G>A | ENSP00000334497.5:n.541-67G>A | |
NM_000218.2:c.922-67G>A , LRG_287t1:c.922-67G>A | NP_000209.2:n.922-67G>A | |
NM_181798.1:c.541-67G>A , LRG_287t2:c.541-67G>A | NP_861463.1:n.541-67G>A | |
NM_000218.3:c.922-67G>A MANE Select | NP_000209.2:n.922-67G>A |