Linked Data
ClinVar Variation Id:
312837
ClinVar RCV Id:
RCV000317665
dbSNP Id:
rs8015849
gnomAD v2:
14-23288936-G-A
gnomAD v3:
14-22819727-G-A
gnomAD v4:
14-22819727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22819727G>A , CM000676.2:g.22819727G>A | GRCh38 |
| NC_000014.8:g.23288936G>A , CM000676.1:g.23288936G>A | GRCh37 |
| NC_000014.7:g.22358776G>A | NCBI36 |
| NG_012851.2:g.15094C>T , LRG_695:g.15094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698939.1:c.-270C>T | ENSP00000514047.1:n.-270C>T | |
| ENST00000285850.11:c.-270C>T | ENSP00000285850.7:n.-270C>T | |
| ENST00000397529.6:c.-132C>T | ENSP00000380663.2:n.-132C>T | |
| ENST00000488800.5:c.-175+3297C>T | ENSP00000421554.1:n.-175+3297C>T | |
| ENST00000553351.1:n.339C>T | ||
| ENST00000553632.1:n.346+788C>T | ||
| ENST00000553874.5:n.412+1395C>T | ||
| ENST00000554741.5:c.-175+1395C>T | ENSP00000451063.1:n.-175+1395C>T | |
| ENST00000555702.5:c.-264C>T | ENSP00000451881.1:n.-264C>T | |
| ENST00000557629.5:c.-175+3192C>T | ENSP00000450495.1:n.-175+3192C>T | |
| NM_001126106.2:c.-264C>T , LRG_695t2:c.-264C>T | NP_001119578.1:n.-264C>T | |
| XM_006720302.1:c.-270C>T | XP_006720365.1:n.-270C>T | |
| XM_011537299.1:c.-132C>T | XP_011535601.1:n.-132C>T | |
| XM_006720302.2:c.-270C>T | XP_006720365.1:n.-270C>T | |
| NM_001126106.4:c.-264C>T | NP_001119578.1:n.-264C>T |