Linked Data
ClinVar Variation Id:
1908256
ClinVar RCV Id:
RCV002581422
dbSNP Id:
rs1167342290
gnomAD v2:
6-30890772-T-G
gnomAD v3:
6-30922995-T-G
gnomAD v4:
6-30922995-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30922995T>G , CM000668.2:g.30922995T>G | GRCh38 |
| NC_000006.11:g.30890772T>G , CM000668.1:g.30890772T>G | GRCh37 |
| NC_000006.10:g.30998751T>G | NCBI36 |
| NG_034224.1:g.13788T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2185+19T>G | ENSP00000441000.2:n.2185+19T>G | |
| ENST00000672801.1:c.2179+19T>G | ENSP00000500615.1:n.2179+19T>G | |
| ENST00000676266.1:c.2185+19T>G MANE Select | ENSP00000502585.1:n.2185+19T>G | |
| ENST00000321897.9:c.2185+19T>G | ENSP00000316092.5:n.2185+19T>G | |
| ENST00000469358.5:n.2173+19T>G | ||
| ENST00000476162.5:n.972+19T>G | ||
| ENST00000477052.1:n.271+19T>G | ||
| ENST00000477288.5:n.4798+19T>G | ||
| ENST00000541562.5:c.2275+19T>G | ENSP00000441000.1:n.2275+19T>G | |
| ENST00000542001.5:c.2179+19T>G | ENSP00000438200.2:n.2179+19T>G | |
| ENST00000625423.2:c.1765+19T>G | ENSP00000485818.1:n.1765+19T>G | |
| NM_001167733.2:c.1765+19T>G | NP_001161205.1:n.1765+19T>G | |
| NM_001167734.1:c.2275+19T>G | NP_001161206.1:n.2275+19T>G | |
| NM_020442.5:c.2185+19T>G | NP_065175.4:n.2185+19T>G | |
| NM_001167733.3:c.1765+19T>G | NP_001161205.1:n.1765+19T>G | |
| NM_001167734.2:c.2275+19T>G | NP_001161206.1:n.2275+19T>G | |
| NM_020442.6:c.2185+19T>G MANE Select | NP_065175.4:n.2185+19T>G |