Linked Data
ClinVar Variation Id:
1426064
ClinVar RCV Id:
RCV001957568
dbSNP Id:
rs1247710193
gnomAD v3:
11-61959558-A-G
gnomAD v4:
11-61959558-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959558A>G , CM000673.2:g.61959558A>G | GRCh38 |
| NC_000011.9:g.61727030A>G , CM000673.1:g.61727030A>G | GRCh37 |
| NC_000011.8:g.61483606A>G | NCBI36 |
| NG_009033.1:g.14675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.928A>G MANE Select | ENSP00000367282.4:p.Ile310Val | |
| ENST00000378043.8:c.928A>G | ENSP00000367282.4:p.Ile310Val | |
| ENST00000449131.6:c.748A>G | ENSP00000399709.2:p.Ile250Val | |
| ENST00000524877.5:n.2559A>G | ||
| ENST00000524926.5:c.1131A>G | ENSP00000432681.1:p.Gly377= | |
| ENST00000526988.1:c.813A>G | ENSP00000433195.1:p.Gly271= | |
| ENST00000534553.5:c.164-2697A>G | ENSP00000431189.1:n.164-2697A>G | |
| NM_001139443.1:c.748A>G | NP_001132915.1:p.Ile250Val | |
| NM_001300786.1:c.688-334A>G | NP_001287715.1:n.688-334A>G | |
| NM_001300787.1:c.748A>G | NP_001287716.1:p.Ile250Val | |
| NM_004183.3:c.928A>G | NP_004174.1:p.Ile310Val | |
| XM_005274210.2:c.928A>G | XP_005274267.1:p.Ile310Val | |
| XM_005274215.2:c.610A>G | XP_005274272.1:p.Ile204Val | |
| XM_005274216.2:c.951A>G | XP_005274273.1:p.Gly317= | |
| XM_005274218.3:c.813A>G | XP_005274275.1:p.Gly271= | |
| XM_005274219.2:c.867+1260A>G | XP_005274276.1:n.867+1260A>G | |
| XM_005274221.2:c.714+2094A>G | XP_005274278.1:n.714+2094A>G | |
| XM_011545229.1:c.928A>G | XP_011543531.1:p.Ile310Val | |
| XM_011545230.1:c.835A>G | XP_011543532.1:p.Ile279Val | |
| XM_011545231.1:c.610A>G | XP_011543533.1:p.Ile204Val | |
| XM_011545232.1:c.1131A>G | XP_011543534.1:p.Gly377= | |
| XM_011545233.1:c.85A>G | XP_011543535.1:p.Ile29Val | |
| NM_001363591.1:c.610A>G | NP_001350520.1:p.Ile204Val | |
| NM_001363592.1:c.1131A>G | NP_001350521.1:p.Gly377= | |
| NM_001363593.1:c.-45A>G | NP_001350522.1:n.-45A>G | |
| NR_134580.1:n.1711A>G | ||
| XM_005274210.4:c.928A>G | XP_005274267.1:p.Ile310Val | |
| XM_005274215.4:c.610A>G | XP_005274272.1:p.Ile204Val | |
| XM_005274216.4:c.951A>G | XP_005274273.1:p.Gly317= | |
| XM_005274219.4:c.867+1260A>G | XP_005274276.1:n.867+1260A>G | |
| XM_005274221.4:c.714+2094A>G | XP_005274278.1:n.714+2094A>G | |
| XM_011545229.3:c.928A>G | XP_011543531.1:p.Ile310Val | |
| XM_011545230.3:c.835A>G | XP_011543532.1:p.Ile279Val | |
| XM_011545233.3:c.85A>G | XP_011543535.1:p.Ile29Val | |
| XM_017018230.2:c.813A>G | XP_016873719.1:p.Gly271= | |
| XR_001747952.2:n.1629A>G | ||
| XR_001747953.2:n.1557+1260A>G | ||
| XR_001747954.2:n.1404+2094A>G | ||
| XR_001748245.1:n.196+174T>C | ||
| XR_002957249.1:n.196+174T>C | ||
| NM_004183.4:c.928A>G MANE Select | NP_004174.1:p.Ile310Val | |
| NM_001139443.2:c.748A>G | NP_001132915.1:p.Ile250Val | |
| NM_001300786.2:c.688-334A>G | NP_001287715.1:n.688-334A>G | |
| NM_001300787.2:c.748A>G | NP_001287716.1:p.Ile250Val | |
| NM_001363591.2:c.610A>G | NP_001350520.1:p.Ile204Val | |
| NM_001363593.2:c.-45A>G | NP_001350522.1:n.-45A>G | |
| NR_134580.2:n.1244A>G |