HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31592916T>C , CM000680.2:g.31592916T>C | GRCh38 |
NC_000018.9:g.29172879T>C , CM000680.1:g.29172879T>C | GRCh37 |
NC_000018.8:g.27426877T>C | NCBI36 |
NG_009490.1:g.6150T>C , LRG_416:g.6150T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.90T>C MANE Select | ENSP00000237014.4:p.Cys30= | |
ENST00000610404.5:c.-7T>C | ENSP00000477599.2:n.-7T>C | |
ENST00000649620.1:c.90T>C | ENSP00000497927.1:p.Cys30= | |
ENST00000237014.7:c.90T>C | ENSP00000237014.3:p.Cys30= | |
ENST00000432547.7:n.116T>C | ||
ENST00000541025.2:n.116T>C | ||
ENST00000610404.4:c.90T>C | ENSP00000477599.1:p.Cys30= | |
ENST00000613781.1:c.90T>C | ENSP00000479174.1:p.Cys30= | |
NM_000371.3:c.90T>C , LRG_416t1:c.90T>C | NP_000362.1:p.Cys30= | |
NM_000371.4:c.90T>C MANE Select | NP_000362.1:p.Cys30= |