Linked Data
ClinVar Variation Id:
2144434
ClinVar RCV Id:
RCV003068397
dbSNP Id:
rs756404729
ExAC:
1:43395004 T / C
gnomAD v2:
1-43395004-T-C
gnomAD v4:
1-42929333-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929333T>C , CM000663.2:g.42929333T>C | GRCh38 |
| NC_000001.10:g.43395004T>C , CM000663.1:g.43395004T>C | GRCh37 |
| NC_000001.9:g.43167591T>C | NCBI36 |
| NG_008232.1:g.34844A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.868-19A>G MANE Select | ENSP00000416293.2:n.868-19A>G | |
| ENST00000674545.1:n.167A>G | ||
| ENST00000674765.1:c.868-19A>G | ENSP00000501811.1:n.868-19A>G | |
| ENST00000675112.1:n.1150A>G | ||
| ENST00000676254.1:n.1317-19A>G | ||
| ENST00000426263.7:c.868-19A>G | ENSP00000416293.2:n.868-19A>G | |
| ENST00000439722.2:c.747-19A>G | ENSP00000395521.2:n.747-19A>G | |
| ENST00000475162.3:c.415+1293A>G | ||
| ENST00000630287.2:c.*183-19A>G | ENSP00000486694.1:n.*183-19A>G | |
| NM_006516.2:c.868-19A>G | NP_006507.2:n.868-19A>G | |
| NM_006516.3:c.868-19A>G | NP_006507.2:n.868-19A>G | |
| NM_006516.4:c.868-19A>G MANE Select | NP_006507.2:n.868-19A>G |