HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659340G>A , CM000685.2:g.136659340G>A | GRCh38 |
NC_000023.10:g.135741499G>A , CM000685.1:g.135741499G>A | GRCh37 |
NC_000023.9:g.135569165G>A | NCBI36 |
NG_007280.1:g.16164G>A , LRG_141:g.16164G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*329G>A | ENSP00000512122.1:n.*329G>A | |
ENST00000695725.1:c.*266G>A | ENSP00000512123.1:n.*266G>A | |
ENST00000695726.1:n.2679G>A | ||
ENST00000695729.1:n.3514G>A | ||
ENST00000370629.7:c.711G>A MANE Select | ENSP00000359663.2:p.Val237= | |
ENST00000370628.2:c.648G>A | ENSP00000359662.2:p.Val216= | |
ENST00000370629.6:c.711G>A | ENSP00000359663.2:p.Val237= | |
NM_000074.2:c.711G>A , LRG_141t1:c.711G>A | NP_000065.1:p.Val237= | |
NM_000074.3:c.711G>A MANE Select | NP_000065.1:p.Val237= |