HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598659C>A , CM000680.2:g.31598659C>A | GRCh38 |
NC_000018.9:g.29178622C>A , CM000680.1:g.29178622C>A | GRCh37 |
NC_000018.8:g.27432620C>A | NCBI36 |
NG_009490.1:g.11893C>A , LRG_416:g.11893C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237014.8:c.428C>A MANE Select | ENSP00000237014.4:p.Thr143Asn | |
ENST00000610404.5:c.332C>A | ENSP00000477599.2:p.Thr111Asn | |
ENST00000649620.1:c.428C>A | ENSP00000497927.1:p.Thr143Asn | |
ENST00000237014.7:c.428C>A | ENSP00000237014.3:p.Thr143Asn | |
ENST00000610404.4:c.542C>A | ENSP00000477599.1:p.Thr181Asn | |
ENST00000613781.1:c.404C>A | ENSP00000479174.1:p.Thr135Asn | |
NM_000371.3:c.428C>A , LRG_416t1:c.428C>A | NP_000362.1:p.Thr143Asn | |
NM_000371.4:c.428C>A MANE Select | NP_000362.1:p.Thr143Asn |