HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665716G>A , CM000663.2:g.172665716G>A | GRCh38 |
NC_000001.10:g.172634856G>A , CM000663.1:g.172634856G>A | GRCh37 |
NC_000001.9:g.170901479G>A | NCBI36 |
NG_007269.1:g.11672G>A , LRG_58:g.11672G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.546G>A MANE Select | ENSP00000356694.2:p.Val182= | |
ENST00000340030.4:c.*116G>A | ENSP00000344739.3:n.*116G>A | |
ENST00000367721.2:c.546G>A | ENSP00000356694.2:p.Val182= | |
NM_000639.2:c.546G>A | NP_000630.1:p.Val182= | |
NM_001302746.1:c.*116G>A | NP_001289675.1:n.*116G>A | |
NM_000639.3:c.546G>A MANE Select | NP_000630.1:p.Val182= | |
NM_001302746.2:c.*116G>A | NP_001289675.1:n.*116G>A |