Linked Data
ClinVar Variation Id:
1004849
ClinVar RCV Id:
RCV001301622
dbSNP Id:
rs766802836
ExAC:
11:68704322 G / A
gnomAD v4:
11-68936854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936854G>A , CM000673.2:g.68936854G>A | GRCh38 |
| NC_000011.9:g.68704322G>A , CM000673.1:g.68704322G>A | GRCh37 |
| NC_000011.8:g.68460898G>A | NCBI36 |
| NG_007976.1:g.38004G>A , LRG_250:g.38004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2374G>A MANE Select | ENSP00000255078.4:p.Ala792Thr | |
| ENST00000674675.1:c.587+31G>A | ||
| ENST00000674878.1:c.548-69G>A | ||
| ENST00000674955.1:c.*1091G>A | ENSP00000502463.1:n.*1091G>A | |
| ENST00000675118.1:c.1862G>A | ||
| ENST00000675389.1:n.649G>A | ||
| ENST00000675615.1:c.2374G>A | ENSP00000502413.1:p.Ala792Thr | |
| ENST00000675648.1:n.1749G>A | ||
| ENST00000675916.1:c.618G>A | ||
| ENST00000676173.1:n.3119G>A | ||
| ENST00000676182.1:c.805G>A | ||
| ENST00000676228.1:c.*1697G>A | ENSP00000502375.1:n.*1697G>A | |
| ENST00000255078.7:c.2374G>A | ENSP00000255078.3:p.Ala792Thr | |
| ENST00000539064.5:n.2133G>A | ||
| ENST00000543739.5:n.1367G>A | ||
| NM_002180.2:c.2374G>A , LRG_250t1:c.2374G>A | NP_002171.2:p.Ala792Thr | |
| XM_005273974.2:c.1363G>A | XP_005274031.1:p.Ala455Thr | |
| XM_005273975.2:c.1246G>A | XP_005274032.1:p.Ala416Thr | |
| XM_011544994.1:c.1141G>A | XP_011543296.1:p.Ala381Thr | |
| XR_949903.1:n.2476G>A | ||
| XM_005273975.3:c.1246G>A | XP_005274032.1:p.Ala416Thr | |
| XM_017017669.2:c.1363G>A | XP_016873158.1:p.Ala455Thr | |
| XM_017017670.2:c.1363G>A | XP_016873159.1:p.Ala455Thr | |
| XR_949903.3:n.2472G>A | ||
| NM_002180.3:c.2374G>A MANE Select | NP_002171.2:p.Ala792Thr |