Linked Data
ClinVar Variation Id:
1574002
ClinVar RCV Id:
RCV002073472
dbSNP Id:
rs200381667
ExAC:
12:6440106 C / T
gnomAD v2:
12-6440106-C-T
gnomAD v3:
12-6330940-C-T
gnomAD v4:
12-6330940-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330940C>T , CM000674.2:g.6330940C>T | GRCh38 |
| NC_000012.11:g.6440106C>T , CM000674.1:g.6440106C>T | GRCh37 |
| NC_000012.10:g.6310367C>T | NCBI36 |
| NG_007506.1:g.16156G>A , LRG_193:g.16156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1639G>A | ||
| ENST00000437813.8:c.*13-14G>A | ENSP00000513672.1:n.*13-14G>A | |
| ENST00000440083.7:c.771-14G>A | ENSP00000413224.3:n.771-14G>A | |
| ENST00000535038.2:n.720G>A | ||
| ENST00000535958.2:c.*379-14G>A | ENSP00000513673.1:n.*379-14G>A | |
| ENST00000698337.1:n.387G>A | ||
| ENST00000698338.1:n.811G>A | ||
| ENST00000698339.1:c.*33G>A | ENSP00000513670.1:n.*33G>A | |
| ENST00000698340.1:c.552-229G>A | ENSP00000513671.1:n.552-229G>A | |
| ENST00000162749.7:c.552-14G>A MANE Select | ENSP00000162749.2:n.552-14G>A | |
| ENST00000162749.6:c.552-14G>A | ENSP00000162749.2:n.552-14G>A | |
| ENST00000534885.5:c.*29-14G>A | ENSP00000441803.1:n.*29-14G>A | |
| ENST00000535038.1:n.208G>A | ||
| ENST00000536717.5:n.442G>A | ||
| ENST00000537842.5:n.156-14G>A | ||
| ENST00000539372.5:c.552-14G>A | ENSP00000442059.1:n.552-14G>A | |
| ENST00000540022.5:c.423-14G>A | ENSP00000438343.1:n.423-14G>A | |
| ENST00000543359.5:n.38-229G>A | ||
| ENST00000543995.5:c.*139-14G>A | ENSP00000442405.1:n.*139-14G>A | |
| NM_001065.3:c.552-14G>A , LRG_193t1:c.552-14G>A | NP_001056.1:n.552-14G>A | |
| NM_001346091.1:c.228-14G>A | NP_001333020.1:n.228-14G>A | |
| NM_001346092.1:c.93-14G>A | NP_001333021.1:n.93-14G>A | |
| NR_144351.1:n.855-229G>A | ||
| NM_001065.4:c.552-14G>A MANE Select | NP_001056.1:n.552-14G>A | |
| NM_001346091.2:c.228-14G>A | NP_001333020.1:n.228-14G>A | |
| NM_001346092.2:c.93-14G>A | NP_001333021.1:n.93-14G>A | |
| NR_144351.2:n.814-229G>A |