HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31595153C>A , CM000680.2:g.31595153C>A | GRCh38 |
NC_000018.9:g.29175116C>A , CM000680.1:g.29175116C>A | GRCh37 |
NC_000018.8:g.27429114C>A | NCBI36 |
NG_009490.1:g.8387C>A , LRG_416:g.8387C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.234C>A MANE Select | ENSP00000237014.4:p.Leu78= | |
ENST00000610404.5:c.138C>A | ENSP00000477599.2:p.Leu46= | |
ENST00000649620.1:c.234C>A | ENSP00000497927.1:p.Leu78= | |
ENST00000237014.7:c.234C>A | ENSP00000237014.3:p.Leu78= | |
ENST00000541025.2:n.260C>A | ||
ENST00000610404.4:c.234C>A | ENSP00000477599.1:p.Leu78= | |
ENST00000613781.1:c.234C>A | ENSP00000479174.1:p.Leu78= | |
NM_000371.3:c.234C>A , LRG_416t1:c.234C>A | NP_000362.1:p.Leu78= | |
NM_000371.4:c.234C>A MANE Select | NP_000362.1:p.Leu78= |