Linked Data
dbSNP Id:
rs552186249
ExAC:
6:30890799 A / G
gnomAD v2:
6-30890799-A-G
gnomAD v3:
6-30923022-A-G
gnomAD v4:
6-30923022-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923022A>G , CM000668.2:g.30923022A>G | GRCh38 |
| NC_000006.11:g.30890799A>G , CM000668.1:g.30890799A>G | GRCh37 |
| NC_000006.10:g.30998778A>G | NCBI36 |
| NG_034224.1:g.13815A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2185+46A>G | ENSP00000441000.2:n.2185+46A>G | |
| ENST00000672801.1:c.2179+46A>G | ENSP00000500615.1:n.2179+46A>G | |
| ENST00000676266.1:c.2185+46A>G MANE Select | ENSP00000502585.1:n.2185+46A>G | |
| ENST00000321897.9:c.2185+46A>G | ENSP00000316092.5:n.2185+46A>G | |
| ENST00000469358.5:n.2173+46A>G | ||
| ENST00000476162.5:n.972+46A>G | ||
| ENST00000477052.1:n.271+46A>G | ||
| ENST00000477288.5:n.4798+46A>G | ||
| ENST00000541562.5:c.2275+46A>G | ENSP00000441000.1:n.2275+46A>G | |
| ENST00000542001.5:c.2179+46A>G | ENSP00000438200.2:n.2179+46A>G | |
| ENST00000625423.2:c.1765+46A>G | ENSP00000485818.1:n.1765+46A>G | |
| NM_001167733.2:c.1765+46A>G | NP_001161205.1:n.1765+46A>G | |
| NM_001167734.1:c.2275+46A>G | NP_001161206.1:n.2275+46A>G | |
| NM_020442.5:c.2185+46A>G | NP_065175.4:n.2185+46A>G | |
| NM_001167733.3:c.1765+46A>G | NP_001161205.1:n.1765+46A>G | |
| NM_001167734.2:c.2275+46A>G | NP_001161206.1:n.2275+46A>G | |
| NM_020442.6:c.2185+46A>G MANE Select | NP_065175.4:n.2185+46A>G |