Linked Data
ClinVar Variation Id:
294323
ClinVar RCV Id:
RCV000320003
dbSNP Id:
rs1056456
gnomAD v2:
1-186159684-C-T
gnomAD v3:
1-186190552-C-T
gnomAD v4:
1-186190552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186190552C>T , CM000663.2:g.186190552C>T | GRCh38 |
| NC_000001.10:g.186159684C>T , CM000663.1:g.186159684C>T | GRCh37 |
| NC_000001.9:g.184426307C>T | NCBI36 |
| NG_011841.1:g.461002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.*674C>T MANE Select | ENSP00000271588.4:n.*674C>T | |
| ENST00000271588.8:c.*674C>T | ENSP00000271588.4:n.*674C>T | |
| NM_031935.2:c.*674C>T | NP_114141.2:n.*674C>T | |
| XM_011510037.1:c.*674C>T | XP_011508339.1:n.*674C>T | |
| XM_011510038.1:c.*674C>T | XP_011508340.1:n.*674C>T | |
| XR_922364.1:n.961-4707G>A | ||
| XR_922365.1:n.961-4707G>A | ||
| XR_922366.1:n.961-4707G>A | ||
| XR_922367.1:n.961-4707G>A | ||
| XM_011510038.3:c.*674C>T | XP_011508340.1:n.*674C>T | |
| XM_017002437.1:c.*674C>T | XP_016857926.1:n.*674C>T | |
| NM_031935.3:c.*674C>T MANE Select | NP_114141.2:n.*674C>T |