HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598657C>G , CM000680.2:g.31598657C>G | GRCh38 |
NC_000018.9:g.29178620C>G , CM000680.1:g.29178620C>G | GRCh37 |
NC_000018.8:g.27432618C>G | NCBI36 |
NG_009490.1:g.11891C>G , LRG_416:g.11891C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237014.8:c.426C>G MANE Select | ENSP00000237014.4:p.Val142= | |
ENST00000610404.5:c.330C>G | ENSP00000477599.2:p.Val110= | |
ENST00000649620.1:c.426C>G | ENSP00000497927.1:p.Val142= | |
ENST00000237014.7:c.426C>G | ENSP00000237014.3:p.Val142= | |
ENST00000610404.4:c.540C>G | ENSP00000477599.1:p.Val180= | |
ENST00000613781.1:c.402C>G | ENSP00000479174.1:p.Val134= | |
NM_000371.3:c.426C>G , LRG_416t1:c.426C>G | NP_000362.1:p.Val142= | |
NM_000371.4:c.426C>G MANE Select | NP_000362.1:p.Val142= |