HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31595207A>G , CM000680.2:g.31595207A>G | GRCh38 |
NC_000018.9:g.29175170A>G , CM000680.1:g.29175170A>G | GRCh37 |
NC_000018.8:g.27429168A>G | NCBI36 |
NG_009490.1:g.8441A>G , LRG_416:g.8441A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.288A>G MANE Select | ENSP00000237014.4:p.Lys96= | |
ENST00000610404.5:c.192A>G | ENSP00000477599.2:p.Lys64= | |
ENST00000649620.1:c.288A>G | ENSP00000497927.1:p.Lys96= | |
ENST00000237014.7:c.288A>G | ENSP00000237014.3:p.Lys96= | |
ENST00000541025.2:n.314A>G | ||
ENST00000610404.4:c.288A>G | ENSP00000477599.1:p.Lys96= | |
ENST00000613781.1:c.288A>G | ENSP00000479174.1:p.Lys96= | |
NM_000371.3:c.288A>G , LRG_416t1:c.288A>G | NP_000362.1:p.Lys96= | |
NM_000371.4:c.288A>G MANE Select | NP_000362.1:p.Lys96= |