HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116172563G>A , CM000685.2:g.116172563G>A | GRCh38 |
NC_000023.10:g.115303816G>A , CM000685.1:g.115303816G>A | GRCh37 |
NC_000023.9:g.115217844G>A | NCBI36 |
NG_016326.1:g.6859G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.283G>A MANE Select | ENSP00000360973.4:p.Ala95Thr | |
ENST00000680409.1:n.751G>A | ||
ENST00000681852.1:c.283G>A | ENSP00000505750.1:p.Ala95Thr | |
ENST00000371906.4:c.283G>A | ENSP00000360973.4:p.Ala95Thr | |
NM_000686.4:c.283G>A | NP_000677.2:p.Ala95Thr | |
XM_011537533.1:c.283G>A | XP_011535835.1:p.Ala95Thr | |
NM_000686.5:c.283G>A MANE Select | NP_000677.2:p.Ala95Thr | |
NM_001385624.1:c.283G>A | NP_001372553.1:p.Ala95Thr |