HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659052T>G , CM000685.2:g.136659052T>G | GRCh38 |
NC_000023.10:g.135741211T>G , CM000685.1:g.135741211T>G | GRCh37 |
NC_000023.9:g.135568877T>G | NCBI36 |
NG_007280.1:g.15876T>G , LRG_141:g.15876T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*41T>G | ENSP00000512122.1:n.*41T>G | |
ENST00000695725.1:c.170T>G | ENSP00000512123.1:p.Leu57Arg | |
ENST00000695726.1:n.2391T>G | ||
ENST00000695729.1:n.3226T>G | ||
ENST00000370629.7:c.423T>G MANE Select | ENSP00000359663.2:p.Ala141= | |
ENST00000370628.2:c.360T>G | ENSP00000359662.2:p.Ala120= | |
ENST00000370629.6:c.423T>G | ENSP00000359663.2:p.Ala141= | |
NM_000074.2:c.423T>G , LRG_141t1:c.423T>G | NP_000065.1:p.Ala141= | |
NM_000074.3:c.423T>G MANE Select | NP_000065.1:p.Ala141= |