Linked Data
ClinVar Variation Id:
1270566
ClinVar RCV Id:
RCV001686308
dbSNP Id:
rs3873330
ExAC:
6:30890789 G / A
gnomAD v2:
6-30890789-G-A
gnomAD v3:
6-30923012-G-A
gnomAD v4:
6-30923012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923012G>A , CM000668.2:g.30923012G>A | GRCh38 |
| NC_000006.11:g.30890789G>A , CM000668.1:g.30890789G>A | GRCh37 |
| NC_000006.10:g.30998768G>A | NCBI36 |
| NG_034224.1:g.13805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2185+36G>A | ENSP00000441000.2:n.2185+36G>A | |
| ENST00000672801.1:c.2179+36G>A | ENSP00000500615.1:n.2179+36G>A | |
| ENST00000676266.1:c.2185+36G>A MANE Select | ENSP00000502585.1:n.2185+36G>A | |
| ENST00000321897.9:c.2185+36G>A | ENSP00000316092.5:n.2185+36G>A | |
| ENST00000469358.5:n.2173+36G>A | ||
| ENST00000476162.5:n.972+36G>A | ||
| ENST00000477052.1:n.271+36G>A | ||
| ENST00000477288.5:n.4798+36G>A | ||
| ENST00000541562.5:c.2275+36G>A | ENSP00000441000.1:n.2275+36G>A | |
| ENST00000542001.5:c.2179+36G>A | ENSP00000438200.2:n.2179+36G>A | |
| ENST00000625423.2:c.1765+36G>A | ENSP00000485818.1:n.1765+36G>A | |
| NM_001167733.2:c.1765+36G>A | NP_001161205.1:n.1765+36G>A | |
| NM_001167734.1:c.2275+36G>A | NP_001161206.1:n.2275+36G>A | |
| NM_020442.5:c.2185+36G>A | NP_065175.4:n.2185+36G>A | |
| NM_001167733.3:c.1765+36G>A | NP_001161205.1:n.1765+36G>A | |
| NM_001167734.2:c.2275+36G>A | NP_001161206.1:n.2275+36G>A | |
| NM_020442.6:c.2185+36G>A MANE Select | NP_065175.4:n.2185+36G>A |