Linked Data
ClinVar Variation Id:
962782
dbSNP Id:
rs201726883
gnomAD v2:
11-68685277-A-T
gnomAD v3:
11-68917809-A-T
gnomAD v4:
11-68917809-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917809A>T , CM000673.2:g.68917809A>T | GRCh38 |
| NC_000011.9:g.68685277A>T , CM000673.1:g.68685277A>T | GRCh37 |
| NC_000011.8:g.68441853A>T | NCBI36 |
| NG_007976.1:g.18959A>T , LRG_250:g.18959A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.986A>T MANE Select | ENSP00000255078.4:p.Glu329Val | |
| ENST00000674745.1:c.74A>T | ENSP00000502738.1:p.Glu25Val | |
| ENST00000674775.1:n.74A>T | ||
| ENST00000674955.1:c.986A>T | ENSP00000502463.1:p.Glu329Val | |
| ENST00000675118.1:c.474A>T | ||
| ENST00000675119.1:c.413A>T | ENSP00000501861.1:n.413A>T | |
| ENST00000675305.1:c.306A>T | ENSP00000502365.1:n.306A>T | |
| ENST00000675464.1:c.269A>T | ENSP00000502650.1:p.Glu90Val | |
| ENST00000675493.1:n.74A>T | ||
| ENST00000675615.1:c.986A>T | ENSP00000502413.1:p.Glu329Val | |
| ENST00000675648.1:n.361A>T | ||
| ENST00000675683.1:c.373A>T | ||
| ENST00000675684.1:c.74A>T | ENSP00000502192.1:p.Glu25Val | |
| ENST00000676173.1:n.1030A>T | ||
| ENST00000676228.1:c.*309A>T | ENSP00000502375.1:n.*309A>T | |
| ENST00000255078.7:c.986A>T | ENSP00000255078.3:p.Glu329Val | |
| NM_002180.2:c.986A>T , LRG_250t1:c.986A>T | NP_002171.2:p.Glu329Val | |
| XM_005273974.2:c.-26A>T | XP_005274031.1:n.-26A>T | |
| XM_005273976.1:c.986A>T | XP_005274033.1:p.Glu329Val | |
| XR_247198.1:n.1088A>T | ||
| XR_949903.1:n.1088A>T | ||
| XM_005273976.2:c.986A>T | XP_005274033.1:p.Glu329Val | |
| XM_017017669.2:c.-26A>T | XP_016873158.1:n.-26A>T | |
| XM_017017670.2:c.-26A>T | XP_016873159.1:n.-26A>T | |
| XM_017017671.2:c.986A>T | XP_016873160.1:p.Glu329Val | |
| XR_949903.3:n.1084A>T | ||
| NM_002180.3:c.986A>T MANE Select | NP_002171.2:p.Glu329Val |