Linked Data
ClinVar Variation Id:
2792530
ClinVar RCV Id:
RCV003741503
dbSNP Id:
rs764861976
ExAC:
10:52834676 C / G
gnomAD v2:
10-52834676-C-G
gnomAD v4:
10-51074916-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.51074916C>G , CM000672.2:g.51074916C>G | GRCh38 |
| NC_000010.10:g.52834676C>G , CM000672.1:g.52834676C>G | GRCh37 |
| NC_000010.9:g.52504682C>G | NCBI36 |
| NG_029982.1:g.88766C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373976.9:c.311+15C>G | ENSP00000363087.4:n.311+15C>G | |
| ENST00000373980.11:c.311+15C>G MANE Select | ENSP00000363092.5:n.311+15C>G | |
| ENST00000401604.8:c.267-78248C>G | ENSP00000384200.4:n.267-78248C>G | |
| ENST00000643582.1:c.311+15C>G | ENSP00000495279.1:n.311+15C>G | |
| ENST00000643704.1:c.311+15C>G | ENSP00000496551.1:n.311+15C>G | |
| ENST00000645324.1:c.311+15C>G | ENSP00000494124.1:n.311+15C>G | |
| ENST00000373980.8:c.311+15C>G | ENSP00000363092.4:n.311+15C>G | |
| ENST00000373985.5:c.267-78248C>G | ENSP00000363097.2:n.267-78248C>G | |
| NM_001098512.2:c.267-78248C>G | NP_001091982.1:n.267-78248C>G | |
| NM_006258.3:c.311+15C>G | NP_006249.1:n.311+15C>G | |
| XM_011539952.1:c.311+15C>G | XP_011538254.1:n.311+15C>G | |
| NM_001098512.3:c.267-78248C>G | NP_001091982.1:n.267-78248C>G | |
| NM_006258.4:c.311+15C>G MANE Select | NP_006249.1:n.311+15C>G | |
| XM_011539952.2:c.311+15C>G | XP_011538254.1:n.311+15C>G | |
| NM_001374782.1:c.311+15C>G | NP_001361711.1:n.311+15C>G |