Linked Data
ClinVar Variation Id:
516755
ClinVar RCV Id:
RCV001719121
dbSNP Id:
rs367960344
ExAC:
6:30883017 A / G
gnomAD v2:
6-30883017-A-G
gnomAD v3:
6-30915240-A-G
gnomAD v4:
6-30915240-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30915240A>G , CM000668.2:g.30915240A>G | GRCh38 |
| NC_000006.11:g.30883017A>G , CM000668.1:g.30883017A>G | GRCh37 |
| NC_000006.10:g.30990996A>G | NCBI36 |
| NG_034224.1:g.6033A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.283+3A>G | ENSP00000441000.2:n.283+3A>G | |
| ENST00000672801.1:c.283+3A>G | ENSP00000500615.1:n.283+3A>G | |
| ENST00000676266.1:c.283+3A>G MANE Select | ENSP00000502585.1:n.283+3A>G | |
| ENST00000321897.9:c.283+3A>G | ENSP00000316092.5:n.283+3A>G | |
| ENST00000421263.1:c.283+3A>G | ENSP00000416390.1:n.283+3A>G | |
| ENST00000428017.5:c.283+3A>G | ENSP00000403749.1:n.283+3A>G | |
| ENST00000467717.5:n.161+3A>G | ||
| ENST00000477288.5:n.2871+3A>G | ||
| ENST00000541562.5:c.373+3A>G | ENSP00000441000.1:n.373+3A>G | |
| ENST00000542001.5:c.283+3A>G | ENSP00000438200.2:n.283+3A>G | |
| ENST00000625423.2:c.-138+3A>G | ENSP00000485818.1:n.-138+3A>G | |
| NM_001167733.2:c.-138+3A>G | NP_001161205.1:n.-138+3A>G | |
| NM_001167734.1:c.373+3A>G | NP_001161206.1:n.373+3A>G | |
| NM_020442.5:c.283+3A>G | NP_065175.4:n.283+3A>G | |
| NM_001167733.3:c.-138+3A>G | NP_001161205.1:n.-138+3A>G | |
| NM_001167734.2:c.373+3A>G | NP_001161206.1:n.373+3A>G | |
| NM_020442.6:c.283+3A>G MANE Select | NP_065175.4:n.283+3A>G |