HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41926151C>T , CM000684.2:g.41926151C>T | GRCh38 |
NC_000022.10:g.42322155C>T , CM000684.1:g.42322155C>T | GRCh37 |
NC_000022.9:g.40652101C>T | NCBI36 |
NG_007579.1:g.5667G>A , LRG_184:g.5667G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291232.5:c.317G>A MANE Select | ENSP00000291232.3:p.Arg106Gln | |
ENST00000291232.4:c.317G>A | ENSP00000291232.3:p.Arg106Gln | |
NM_052945.3:c.317G>A , LRG_184t1:c.317G>A | NP_443177.1:p.Arg106Gln | |
NM_052945.4:c.317G>A MANE Select | NP_443177.1:p.Arg106Gln |