HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147128730G>A , CM000669.2:g.147128730G>A | GRCh38 |
NC_000007.13:g.146825822G>A , CM000669.1:g.146825822G>A | GRCh37 |
NC_000007.12:g.146456755G>A | NCBI36 |
NG_007092.2:g.1017370G>A | |
NG_007092.3:g.1017730G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.977G>A MANE Select | ENSP00000354778.3:p.Ser326Asn | |
ENST00000636561.1:n.880G>A | ||
ENST00000636870.1:n.839G>A | ||
ENST00000637150.1:n.906G>A | ||
ENST00000637694.1:n.880G>A | ||
ENST00000637825.1:n.460G>A | ||
ENST00000638117.1:n.880G>A | ||
ENST00000361727.7:c.977G>A | ENSP00000354778.3:p.Ser326Asn | |
NM_014141.5:c.977G>A | NP_054860.1:p.Ser326Asn | |
XM_017011950.2:c.977G>A | XP_016867439.1:p.Ser326Asn | |
NM_014141.6:c.977G>A MANE Select | NP_054860.1:p.Ser326Asn |