Linked Data
ClinVar Variation Id:
263310
dbSNP Id:
rs150412089
ExAC:
11:22276869 T / A
gnomAD v2:
11-22276869-T-A
gnomAD v3:
11-22255323-T-A
gnomAD v4:
11-22255323-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22255323T>A , CM000673.2:g.22255323T>A | GRCh38 |
| NC_000011.9:g.22276869T>A , CM000673.1:g.22276869T>A | GRCh37 |
| NC_000011.8:g.22233445T>A | NCBI36 |
| NG_015844.1:g.67148T>A , LRG_868:g.67148T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.501-48T>A | ||
| ENST00000682266.1:c.731-48T>A | ENSP00000507766.1:n.731-48T>A | |
| ENST00000682341.1:c.1139-48T>A | ENSP00000508251.1:n.1139-48T>A | |
| ENST00000682530.1:c.*1113-48T>A | ENSP00000506805.1:n.*1113-48T>A | |
| ENST00000683197.1:c.1139-48T>A | ENSP00000507641.1:n.1139-48T>A | |
| ENST00000683411.1:c.731-48T>A | ENSP00000508397.1:n.731-48T>A | |
| ENST00000683437.1:c.731-48T>A | ENSP00000508408.1:n.731-48T>A | |
| ENST00000683613.1:n.2175-48T>A | ||
| ENST00000683834.1:n.1381-48T>A | ||
| ENST00000684663.1:c.1136-48T>A | ENSP00000508009.1:n.1136-48T>A | |
| ENST00000324559.9:c.1181-48T>A MANE Select | ENSP00000315371.9:n.1181-48T>A | |
| ENST00000648804.1:n.1516-48T>A | ||
| ENST00000324559.8:c.1181-48T>A | ENSP00000315371.8:n.1181-48T>A | |
| NM_001142649.1:c.1178-48T>A | NP_001136121.1:n.1178-48T>A | |
| NM_213599.2:c.1181-48T>A , LRG_868t1:c.1181-48T>A | NP_998764.1:n.1181-48T>A | |
| XM_005252820.2:c.1139-48T>A | XP_005252877.2:n.1139-48T>A | |
| XM_005252821.2:c.1136-48T>A | XP_005252878.2:n.1136-48T>A | |
| XM_005252822.3:c.1103-48T>A | XP_005252879.1:n.1103-48T>A | |
| XM_005252823.3:c.1100-48T>A | XP_005252880.1:n.1100-48T>A | |
| XM_011519949.1:c.1088-48T>A | XP_011518251.1:n.1088-48T>A | |
| XM_005252820.3:c.1139-48T>A | XP_005252877.2:n.1139-48T>A | |
| XM_005252821.3:c.1136-48T>A | XP_005252878.2:n.1136-48T>A | |
| XM_005252822.4:c.1103-48T>A | XP_005252879.1:n.1103-48T>A | |
| XM_011519949.2:c.1088-48T>A | XP_011518251.1:n.1088-48T>A | |
| NM_001142649.2:c.1178-48T>A | NP_001136121.1:n.1178-48T>A | |
| NM_213599.3:c.1181-48T>A MANE Select | NP_998764.1:n.1181-48T>A |