Linked Data
ClinVar Variation Id:
1122376
ClinVar RCV Id:
RCV001453040
dbSNP Id:
rs1315938947
gnomAD v2:
14-88406242-T-C
gnomAD v4:
14-87939898-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87939898T>C , CM000676.2:g.87939898T>C | GRCh38 |
| NC_000014.8:g.88406242T>C , CM000676.1:g.88406242T>C | GRCh37 |
| NC_000014.7:g.87475995T>C | NCBI36 |
| NG_011853.2:g.58666A>G | |
| NG_011853.3:g.58666A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1911+7A>G MANE Select | ENSP00000261304.2:n.1911+7A>G | |
| ENST00000261304.6:c.1911+7A>G | ENSP00000261304.2:n.1911+7A>G | |
| ENST00000393568.8:c.1842+7A>G | ENSP00000377198.4:n.1842+7A>G | |
| ENST00000393569.6:c.1833+7A>G | ENSP00000377199.2:n.1833+7A>G | |
| ENST00000544807.6:c.1743+7A>G | ENSP00000437513.2:n.1743+7A>G | |
| ENST00000555000.5:c.1278+7A>G | ENSP00000450472.1:n.1278+7A>G | |
| ENST00000555179.1:c.447+7A>G | ||
| NM_000153.3:c.1911+7A>G | NP_000144.2:n.1911+7A>G | |
| NM_001201401.1:c.1842+7A>G | NP_001188330.1:n.1842+7A>G | |
| NM_001201402.1:c.1833+7A>G | NP_001188331.1:n.1833+7A>G | |
| XM_011536618.1:c.1743+7A>G | XP_011534920.1:n.1743+7A>G | |
| XM_011536618.2:c.1743+7A>G | XP_011534920.1:n.1743+7A>G | |
| NM_000153.4:c.1911+7A>G MANE Select | NP_000144.2:n.1911+7A>G | |
| NM_001201401.2:c.1842+7A>G | NP_001188330.1:n.1842+7A>G | |
| NM_001201402.2:c.1833+7A>G | NP_001188331.1:n.1833+7A>G |