Linked Data
ClinVar Variation Id:
343166
dbSNP Id:
rs774054837
gnomAD v2:
3-128532448-A-G
gnomAD v3:
3-128813605-A-G
gnomAD v4:
3-128813605-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128813605A>G , CM000665.2:g.128813605A>G | GRCh38 |
| NC_000003.11:g.128532448A>G , CM000665.1:g.128532448A>G | GRCh37 |
| NC_000003.10:g.130015138A>G | NCBI36 |
| NG_008070.1:g.92470A>G , LRG_266:g.92470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265062.8:c.*183A>G MANE Select | ENSP00000265062.3:n.*183A>G | |
| ENST00000490093.6:c.*349A>G | ENSP00000418955.2:n.*349A>G | |
| ENST00000674589.1:c.*183A>G | ENSP00000502088.1:n.*183A>G | |
| ENST00000674593.1:n.805A>G | ||
| ENST00000674748.1:c.*183A>G | ENSP00000502224.1:n.*183A>G | |
| ENST00000675342.1:c.*183A>G | ENSP00000502486.1:n.*183A>G | |
| ENST00000675497.1:c.*183A>G | ENSP00000502000.1:n.*183A>G | |
| ENST00000675712.1:n.1991A>G | ||
| ENST00000675864.1:c.528+5934A>G | ENSP00000502566.1:n.528+5934A>G | |
| ENST00000676147.1:c.887A>G | ||
| ENST00000676214.1:c.*183A>G | ENSP00000501618.1:n.*183A>G | |
| ENST00000676425.1:c.*283A>G | ENSP00000502084.1:n.*283A>G | |
| ENST00000265062.7:c.*183A>G | ENSP00000265062.3:n.*183A>G | |
| ENST00000482525.5:c.*183A>G | ENSP00000417668.1:n.*183A>G | |
| ENST00000485280.1:c.*183A>G | ENSP00000418283.1:n.*183A>G | |
| NM_004637.5:c.*183A>G , LRG_266t1:c.*183A>G | NP_004628.4:n.*183A>G | |
| XM_024453745.1:c.*183A>G | XP_024309513.1:n.*183A>G | |
| XR_002959582.1:n.1991A>G | ||
| XR_002959583.1:n.1919A>G | ||
| NM_004637.6:c.*183A>G MANE Select | NP_004628.4:n.*183A>G |