HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571209T>A , CM000663.2:g.154571209T>A | GRCh38 |
NC_000001.10:g.154543685T>A , CM000663.1:g.154543685T>A | GRCh37 |
NC_000001.9:g.152810309T>A | NCBI36 |
NG_008027.1:g.8429T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.386T>A MANE Select | ENSP00000357461.3:p.Val129Glu | |
ENST00000636034.1:c.386T>A | ENSP00000489703.1:p.Val129Glu | |
ENST00000637900.1:c.392T>A | ENSP00000490474.1:p.Val131Glu | |
ENST00000368476.3:c.386T>A | ENSP00000357461.3:p.Val129Glu | |
NM_000748.2:c.386T>A | NP_000739.1:p.Val129Glu | |
XM_017000180.2:c.-9-116T>A | XP_016855669.1:n.-9-116T>A | |
XR_001736952.2:n.638T>A | ||
NM_000748.3:c.386T>A MANE Select | NP_000739.1:p.Val129Glu |