Linked Data
ClinVar Variation Id:
432239
dbSNP Id:
rs140221316
ExAC:
11:68701997 A / G
gnomAD v2:
11-68701997-A-G
gnomAD v3:
11-68934529-A-G
gnomAD v4:
11-68934529-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934529A>G , CM000673.2:g.68934529A>G | GRCh38 |
| NC_000011.9:g.68701997A>G , CM000673.1:g.68701997A>G | GRCh37 |
| NC_000011.8:g.68458573A>G | NCBI36 |
| NG_007976.1:g.35679A>G , LRG_250:g.35679A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1603A>G MANE Select | ENSP00000255078.4:p.Ile535Val | |
| ENST00000674672.1:n.66A>G | ||
| ENST00000674955.1:c.*320A>G | ENSP00000502463.1:n.*320A>G | |
| ENST00000675118.1:c.1091A>G | ||
| ENST00000675205.1:n.249A>G | ||
| ENST00000675615.1:c.1603A>G | ENSP00000502413.1:p.Ile535Val | |
| ENST00000675648.1:n.978A>G | ||
| ENST00000675964.1:n.66A>G | ||
| ENST00000675997.1:n.178A>G | ||
| ENST00000676173.1:n.2348A>G | ||
| ENST00000676182.1:c.66A>G | ||
| ENST00000676228.1:c.*926A>G | ENSP00000502375.1:n.*926A>G | |
| ENST00000255078.7:c.1603A>G | ENSP00000255078.3:p.Ile535Val | |
| ENST00000539064.5:n.1362A>G | ||
| ENST00000541229.5:n.298A>G | ||
| ENST00000543739.5:n.720A>G | ||
| ENST00000545475.1:n.199A>G | ||
| NM_002180.2:c.1603A>G , LRG_250t1:c.1603A>G | NP_002171.2:p.Ile535Val | |
| XM_005273974.2:c.592A>G | XP_005274031.1:p.Ile198Val | |
| XM_005273975.2:c.475A>G | XP_005274032.1:p.Ile159Val | |
| XM_011544994.1:c.370A>G | XP_011543296.1:p.Ile124Val | |
| XR_949903.1:n.1705A>G | ||
| XM_005273975.3:c.475A>G | XP_005274032.1:p.Ile159Val | |
| XM_017017669.2:c.592A>G | XP_016873158.1:p.Ile198Val | |
| XM_017017670.2:c.592A>G | XP_016873159.1:p.Ile198Val | |
| XM_017017671.2:c.1603A>G | XP_016873160.1:p.Ile535Val | |
| XR_949903.3:n.1701A>G | ||
| NM_002180.3:c.1603A>G MANE Select | NP_002171.2:p.Ile535Val |