Linked Data
ClinVar Variation Id:
450280
dbSNP Id:
rs764900781
ExAC:
11:68703714 G / T
gnomAD v2:
11-68703714-G-T
gnomAD v4:
11-68936246-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936246G>T , CM000673.2:g.68936246G>T | GRCh38 |
| NC_000011.9:g.68703714G>T , CM000673.1:g.68703714G>T | GRCh37 |
| NC_000011.8:g.68460290G>T | NCBI36 |
| NG_007976.1:g.37396G>T , LRG_250:g.37396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1766G>T MANE Select | ENSP00000255078.4:p.Gly589Val | |
| ENST00000674675.1:c.10G>T | ||
| ENST00000674878.1:c.10G>T | ||
| ENST00000674955.1:c.*483G>T | ENSP00000502463.1:n.*483G>T | |
| ENST00000675118.1:c.1254G>T | ||
| ENST00000675389.1:n.41G>T | ||
| ENST00000675615.1:c.1766G>T | ENSP00000502413.1:p.Gly589Val | |
| ENST00000675648.1:n.1141G>T | ||
| ENST00000675916.1:c.10G>T | ||
| ENST00000676173.1:n.2511G>T | ||
| ENST00000676182.1:c.197G>T | ||
| ENST00000676228.1:c.*1089G>T | ENSP00000502375.1:n.*1089G>T | |
| ENST00000255078.7:c.1766G>T | ENSP00000255078.3:p.Gly589Val | |
| ENST00000539064.5:n.1525G>T | ||
| ENST00000541229.5:n.461G>T | ||
| ENST00000543739.5:n.759G>T | ||
| ENST00000545475.1:n.362G>T | ||
| NM_002180.2:c.1766G>T , LRG_250t1:c.1766G>T | NP_002171.2:p.Gly589Val | |
| XM_005273974.2:c.755G>T | XP_005274031.1:p.Gly252Val | |
| XM_005273975.2:c.638G>T | XP_005274032.1:p.Gly213Val | |
| XM_011544994.1:c.533G>T | XP_011543296.1:p.Gly178Val | |
| XR_949903.1:n.1868G>T | ||
| XM_005273975.3:c.638G>T | XP_005274032.1:p.Gly213Val | |
| XM_017017669.2:c.755G>T | XP_016873158.1:p.Gly252Val | |
| XM_017017670.2:c.755G>T | XP_016873159.1:p.Gly252Val | |
| XR_949903.3:n.1864G>T | ||
| NM_002180.3:c.1766G>T MANE Select | NP_002171.2:p.Gly589Val |