HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91338149C>T , CM000676.2:g.91338149C>T | GRCh38 |
NC_000014.8:g.91804493C>T , CM000676.1:g.91804493C>T | GRCh37 |
NC_000014.7:g.90874246C>T | NCBI36 |
NG_033118.1:g.84696G>A | |
NG_033118.2:g.84696G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.906G>A MANE Select | ENSP00000374507.6:p.Ala302= | |
ENST00000389857.10:c.906G>A | ENSP00000374507.6:p.Ala302= | |
ENST00000554051.1:n.383G>A | ||
NM_001080414.3:c.906G>A | NP_001073883.2:p.Ala302= | |
XM_005267691.3:c.906G>A | XP_005267748.1:p.Ala302= | |
XM_011536796.1:c.798G>A | XP_011535098.1:p.Ala266= | |
XR_429316.2:n.1034G>A | ||
XR_943459.1:n.1034G>A | ||
XM_005267691.5:c.906G>A | XP_005267748.1:p.Ala302= | |
XM_011536796.2:c.798G>A | XP_011535098.1:p.Ala266= | |
XM_017021335.2:c.906G>A | XP_016876824.1:p.Ala302= | |
XM_017021337.2:c.906G>A | XP_016876826.1:p.Ala302= | |
XR_429316.4:n.1032G>A | ||
NM_001080414.4:c.906G>A MANE Select | NP_001073883.2:p.Ala302= |