Linked Data
ClinVar Variation Id:
194805
dbSNP Id:
rs142027093
ExAC:
11:22284590 G / A
gnomAD v2:
11-22284590-G-A
gnomAD v3:
11-22263044-G-A
gnomAD v4:
11-22263044-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22263044G>A , CM000673.2:g.22263044G>A | GRCh38 |
| NC_000011.9:g.22284590G>A , CM000673.1:g.22284590G>A | GRCh37 |
| NC_000011.8:g.22241166G>A | NCBI36 |
| NG_015844.1:g.74869G>A , LRG_868:g.74869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1448+1G>A | ENSP00000507766.1:n.1448+1G>A | |
| ENST00000682341.1:c.1856+1G>A | ENSP00000508251.1:n.1856+1G>A | |
| ENST00000683197.1:c.1856+1G>A | ENSP00000507641.1:n.1856+1G>A | |
| ENST00000683411.1:c.1448+1G>A | ENSP00000508397.1:n.1448+1G>A | |
| ENST00000683437.1:c.1448+1G>A | ENSP00000508408.1:n.1448+1G>A | |
| ENST00000683613.1:n.2892+1G>A | ||
| ENST00000684663.1:c.1853+1G>A | ENSP00000508009.1:n.1853+1G>A | |
| ENST00000324559.9:c.1898+1G>A MANE Select | ENSP00000315371.9:n.1898+1G>A | |
| ENST00000648804.1:n.2233+1G>A | ||
| ENST00000324559.8:c.1898+1G>A | ENSP00000315371.8:n.1898+1G>A | |
| NM_001142649.1:c.1895+1G>A | NP_001136121.1:n.1895+1G>A | |
| NM_213599.2:c.1898+1G>A , LRG_868t1:c.1898+1G>A | NP_998764.1:n.1898+1G>A | |
| XM_005252820.2:c.1856+1G>A | XP_005252877.2:n.1856+1G>A | |
| XM_005252821.2:c.1853+1G>A | XP_005252878.2:n.1853+1G>A | |
| XM_005252822.3:c.1820+1G>A | XP_005252879.1:n.1820+1G>A | |
| XM_005252823.3:c.1817+1G>A | XP_005252880.1:n.1817+1G>A | |
| XM_011519949.1:c.1805+1G>A | XP_011518251.1:n.1805+1G>A | |
| XM_005252820.3:c.1856+1G>A | XP_005252877.2:n.1856+1G>A | |
| XM_005252821.3:c.1853+1G>A | XP_005252878.2:n.1853+1G>A | |
| XM_005252822.4:c.1820+1G>A | XP_005252879.1:n.1820+1G>A | |
| XM_011519949.2:c.1805+1G>A | XP_011518251.1:n.1805+1G>A | |
| NM_001142649.2:c.1895+1G>A | NP_001136121.1:n.1895+1G>A | |
| NM_213599.3:c.1898+1G>A MANE Select | NP_998764.1:n.1898+1G>A |