HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659379C>G , CM000685.2:g.136659379C>G | GRCh38 |
NC_000023.10:g.135741538C>G , CM000685.1:g.135741538C>G | GRCh37 |
NC_000023.9:g.135569204C>G | NCBI36 |
NG_007280.1:g.16203C>G , LRG_141:g.16203C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*368C>G | ENSP00000512122.1:n.*368C>G | |
ENST00000695725.1:c.*305C>G | ENSP00000512123.1:n.*305C>G | |
ENST00000695726.1:n.2718C>G | ||
ENST00000695729.1:n.3553C>G | ||
ENST00000370629.7:c.750C>G MANE Select | ENSP00000359663.2:p.Gly250= | |
ENST00000370628.2:c.687C>G | ENSP00000359662.2:p.Gly229= | |
ENST00000370629.6:c.750C>G | ENSP00000359663.2:p.Gly250= | |
NM_000074.2:c.750C>G , LRG_141t1:c.750C>G | NP_000065.1:p.Gly250= | |
NM_000074.3:c.750C>G MANE Select | NP_000065.1:p.Gly250= |