HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659254G>A , CM000685.2:g.136659254G>A | GRCh38 |
NC_000023.10:g.135741413G>A , CM000685.1:g.135741413G>A | GRCh37 |
NC_000023.9:g.135569079G>A | NCBI36 |
NG_007280.1:g.16078G>A , LRG_141:g.16078G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*243G>A | ENSP00000512122.1:n.*243G>A | |
ENST00000695725.1:c.*180G>A | ENSP00000512123.1:n.*180G>A | |
ENST00000695726.1:n.2593G>A | ||
ENST00000695729.1:n.3428G>A | ||
ENST00000370629.7:c.625G>A MANE Select | ENSP00000359663.2:p.Ala209Thr | |
ENST00000370628.2:c.562G>A | ENSP00000359662.2:p.Ala188Thr | |
ENST00000370629.6:c.625G>A | ENSP00000359663.2:p.Ala209Thr | |
NM_000074.2:c.625G>A , LRG_141t1:c.625G>A | NP_000065.1:p.Ala209Thr | |
NM_000074.3:c.625G>A MANE Select | NP_000065.1:p.Ala209Thr |