HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659116G= , CM000685.2:g.136659116G= | GRCh38 |
NC_000023.10:g.135741275G= , CM000685.1:g.135741275G= | GRCh37 |
NC_000023.9:g.135568941G= | NCBI36 |
NG_007280.1:g.15940G= , LRG_141:g.15940G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*105G= | ENSP00000512122.1:n.*105G= | |
ENST00000695725.1:c.*42G= | ENSP00000512123.1:n.*42G= | |
ENST00000695726.1:n.2455G= | ||
ENST00000695729.1:n.3290G= | ||
ENST00000370629.7:c.487G= MANE Select | ENSP00000359663.2:p.Val163= | |
ENST00000370628.2:c.424G= | ENSP00000359662.2:p.Val142= | |
ENST00000370629.6:c.487G= | ENSP00000359663.2:p.Val163= | |
NM_000074.2:c.487G= , LRG_141t1:c.487G= | NP_000065.1:p.Val163= | |
NM_000074.3:c.487G= MANE Select | NP_000065.1:p.Val163= |