HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659111T>A , CM000685.2:g.136659111T>A | GRCh38 |
NC_000023.10:g.135741270T>A , CM000685.1:g.135741270T>A | GRCh37 |
NC_000023.9:g.135568936T>A | NCBI36 |
NG_007280.1:g.15935T>A , LRG_141:g.15935T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*100T>A | ENSP00000512122.1:n.*100T>A | |
ENST00000695725.1:c.*37T>A | ENSP00000512123.1:n.*37T>A | |
ENST00000695726.1:n.2450T>A | ||
ENST00000695729.1:n.3285T>A | ||
ENST00000370629.7:c.482T>A MANE Select | ENSP00000359663.2:p.Leu161Gln | |
ENST00000370628.2:c.419T>A | ENSP00000359662.2:p.Leu140Gln | |
ENST00000370629.6:c.482T>A | ENSP00000359663.2:p.Leu161Gln | |
NM_000074.2:c.482T>A , LRG_141t1:c.482T>A | NP_000065.1:p.Leu161Gln | |
NM_000074.3:c.482T>A MANE Select | NP_000065.1:p.Leu161Gln |