HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31595139G>C , CM000680.2:g.31595139G>C | GRCh38 |
NC_000018.9:g.29175102G>C , CM000680.1:g.29175102G>C | GRCh37 |
NC_000018.8:g.27429100G>C | NCBI36 |
NG_009490.1:g.8373G>C , LRG_416:g.8373G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.220G>C MANE Select | ENSP00000237014.4:p.Glu74Gln | |
ENST00000610404.5:c.124G>C | ENSP00000477599.2:p.Glu42Gln | |
ENST00000649620.1:c.220G>C | ENSP00000497927.1:p.Glu74Gln | |
ENST00000237014.7:c.220G>C | ENSP00000237014.3:p.Glu74Gln | |
ENST00000541025.2:n.246G>C | ||
ENST00000610404.4:c.220G>C | ENSP00000477599.1:p.Glu74Gln | |
ENST00000613781.1:c.220G>C | ENSP00000479174.1:p.Glu74Gln | |
NM_000371.3:c.220G>C , LRG_416t1:c.220G>C | NP_000362.1:p.Glu74Gln | |
NM_000371.4:c.220G>C MANE Select | NP_000362.1:p.Glu74Gln |