Linked Data
ClinVar Variation Id:
2193598
ClinVar RCV Id:
RCV002647192
dbSNP Id:
rs1853218088
gnomAD v3:
11-22236293-T-C
gnomAD v4:
11-22236293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22236293T>C , CM000673.2:g.22236293T>C | GRCh38 |
| NC_000011.9:g.22257839T>C , CM000673.1:g.22257839T>C | GRCh37 |
| NC_000011.8:g.22214415T>C | NCBI36 |
| NG_015844.1:g.48118T>C , LRG_868:g.48118T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.312+17T>C | ENSP00000507766.1:n.312+17T>C | |
| ENST00000682341.1:c.720+17T>C | ENSP00000508251.1:n.720+17T>C | |
| ENST00000682530.1:c.*694+17T>C | ENSP00000506805.1:n.*694+17T>C | |
| ENST00000682684.1:n.1141+17T>C | ||
| ENST00000683197.1:c.720+17T>C | ENSP00000507641.1:n.720+17T>C | |
| ENST00000683411.1:c.312+17T>C | ENSP00000508397.1:n.312+17T>C | |
| ENST00000683437.1:c.312+17T>C | ENSP00000508408.1:n.312+17T>C | |
| ENST00000683613.1:n.1756+17T>C | ||
| ENST00000683834.1:n.962+17T>C | ||
| ENST00000684663.1:c.717+17T>C | ENSP00000508009.1:n.717+17T>C | |
| ENST00000324559.9:c.762+17T>C MANE Select | ENSP00000315371.9:n.762+17T>C | |
| ENST00000648804.1:n.1213+8707T>C | ||
| ENST00000324559.8:c.762+17T>C | ENSP00000315371.8:n.762+17T>C | |
| NM_001142649.1:c.759+17T>C | NP_001136121.1:n.759+17T>C | |
| NM_213599.2:c.762+17T>C , LRG_868t1:c.762+17T>C | NP_998764.1:n.762+17T>C | |
| XM_005252820.2:c.720+17T>C | XP_005252877.2:n.720+17T>C | |
| XM_005252821.2:c.717+17T>C | XP_005252878.2:n.717+17T>C | |
| XM_005252822.3:c.684+17T>C | XP_005252879.1:n.684+17T>C | |
| XM_005252823.3:c.681+17T>C | XP_005252880.1:n.681+17T>C | |
| XM_011519949.1:c.669+17T>C | XP_011518251.1:n.669+17T>C | |
| XM_005252820.3:c.720+17T>C | XP_005252877.2:n.720+17T>C | |
| XM_005252821.3:c.717+17T>C | XP_005252878.2:n.717+17T>C | |
| XM_005252822.4:c.684+17T>C | XP_005252879.1:n.684+17T>C | |
| XM_011519949.2:c.669+17T>C | XP_011518251.1:n.669+17T>C | |
| NM_001142649.2:c.759+17T>C | NP_001136121.1:n.759+17T>C | |
| NM_213599.3:c.762+17T>C MANE Select | NP_998764.1:n.762+17T>C |