Linked Data
ClinVar Variation Id:
1604558
ClinVar RCV Id:
RCV002149569
dbSNP Id:
rs1005880496
gnomAD v4:
11-68936928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936928G>A , CM000673.2:g.68936928G>A | GRCh38 |
| NC_000011.9:g.68704396G>A , CM000673.1:g.68704396G>A | GRCh37 |
| NC_000011.8:g.68460972G>A | NCBI36 |
| NG_007976.1:g.38078G>A , LRG_250:g.38078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2448G>A MANE Select | ENSP00000255078.4:p.Glu816= | |
| ENST00000674675.1:c.593G>A | ||
| ENST00000674878.1:c.553G>A | ||
| ENST00000675118.1:c.1936G>A | ||
| ENST00000675389.1:n.723G>A | ||
| ENST00000675615.1:c.2448G>A | ENSP00000502413.1:p.Glu816= | |
| ENST00000675648.1:n.1823G>A | ||
| ENST00000675916.1:c.692G>A | ||
| ENST00000676173.1:n.3193G>A | ||
| ENST00000676182.1:c.879G>A | ||
| ENST00000676228.1:c.*1771G>A | ENSP00000502375.1:n.*1771G>A | |
| ENST00000255078.7:c.2448G>A | ENSP00000255078.3:p.Glu816= | |
| ENST00000539064.5:n.2207G>A | ||
| ENST00000543739.5:n.1441G>A | ||
| NM_002180.2:c.2448G>A , LRG_250t1:c.2448G>A | NP_002171.2:p.Glu816= | |
| XM_005273974.2:c.1437G>A | XP_005274031.1:p.Glu479= | |
| XM_005273975.2:c.1320G>A | XP_005274032.1:p.Glu440= | |
| XM_011544994.1:c.1215G>A | XP_011543296.1:p.Glu405= | |
| XR_949903.1:n.2550G>A | ||
| XM_005273975.3:c.1320G>A | XP_005274032.1:p.Glu440= | |
| XM_017017669.2:c.1437G>A | XP_016873158.1:p.Glu479= | |
| XM_017017670.2:c.1437G>A | XP_016873159.1:p.Glu479= | |
| XR_949903.3:n.2546G>A | ||
| NM_002180.3:c.2448G>A MANE Select | NP_002171.2:p.Glu816= |