HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598655G>C , CM000680.2:g.31598655G>C | GRCh38 |
NC_000018.9:g.29178618G>C , CM000680.1:g.29178618G>C | GRCh37 |
NC_000018.8:g.27432616G>C | NCBI36 |
NG_009490.1:g.11889G>C , LRG_416:g.11889G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237014.8:c.424G>C MANE Select | ENSP00000237014.4:p.Val142Leu | |
ENST00000610404.5:c.328G>C | ENSP00000477599.2:p.Val110Leu | |
ENST00000649620.1:c.424G>C | ENSP00000497927.1:p.Val142Leu | |
ENST00000237014.7:c.424G>C | ENSP00000237014.3:p.Val142Leu | |
ENST00000610404.4:c.538G>C | ENSP00000477599.1:p.Val180Leu | |
ENST00000613781.1:c.400G>C | ENSP00000479174.1:p.Val134Leu | |
NM_000371.3:c.424G>C , LRG_416t1:c.424G>C | NP_000362.1:p.Val142Leu | |
NM_000371.4:c.424G>C MANE Select | NP_000362.1:p.Val142Leu |