HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659171G= , CM000685.2:g.136659171G= | GRCh38 |
NC_000023.10:g.135741330G= , CM000685.1:g.135741330G= | GRCh37 |
NC_000023.9:g.135568996G= | NCBI36 |
NG_007280.1:g.15995G= , LRG_141:g.15995G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*160G= | ENSP00000512122.1:n.*160G= | |
ENST00000695725.1:c.*97G= | ENSP00000512123.1:n.*97G= | |
ENST00000695726.1:n.2510G= | ||
ENST00000695729.1:n.3345G= | ||
ENST00000370629.7:c.542G= MANE Select | ENSP00000359663.2:p.Arg181= | |
ENST00000370628.2:c.479G= | ENSP00000359662.2:p.Arg160= | |
ENST00000370629.6:c.542G= | ENSP00000359663.2:p.Arg181= | |
NM_000074.2:c.542G= , LRG_141t1:c.542G= | NP_000065.1:p.Arg181= | |
NM_000074.3:c.542G= MANE Select | NP_000065.1:p.Arg181= |