HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659212C>A , CM000685.2:g.136659212C>A | GRCh38 |
NC_000023.10:g.135741371C>A , CM000685.1:g.135741371C>A | GRCh37 |
NC_000023.9:g.135569037C>A | NCBI36 |
NG_007280.1:g.16036C>A , LRG_141:g.16036C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*201C>A | ENSP00000512122.1:n.*201C>A | |
ENST00000695725.1:c.*138C>A | ENSP00000512123.1:n.*138C>A | |
ENST00000695726.1:n.2551C>A | ||
ENST00000695729.1:n.3386C>A | ||
ENST00000370629.7:c.583C>A MANE Select | ENSP00000359663.2:p.Leu195Ile | |
ENST00000370628.2:c.520C>A | ENSP00000359662.2:p.Leu174Ile | |
ENST00000370629.6:c.583C>A | ENSP00000359663.2:p.Leu195Ile | |
NM_000074.2:c.583C>A , LRG_141t1:c.583C>A | NP_000065.1:p.Leu195Ile | |
NM_000074.3:c.583C>A MANE Select | NP_000065.1:p.Leu195Ile |