Linked Data
ClinVar Variation Id:
1588019
ClinVar RCV Id:
RCV002116918
dbSNP Id:
rs758142768
ExAC:
1:229568714 C / G
gnomAD v2:
1-229568714-C-G
gnomAD v3:
1-229432967-C-G
gnomAD v4:
1-229432967-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432967C>G , CM000663.2:g.229432967C>G | GRCh38 |
| NC_000001.10:g.229568714C>G , CM000663.1:g.229568714C>G | GRCh37 |
| NC_000001.9:g.227635337C>G | NCBI36 |
| NG_006672.1:g.6130G>C , LRG_429:g.6130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.129+20G>C | ENSP00000355644.4:n.129+20G>C | |
| ENST00000684723.1:c.-6-87G>C | ENSP00000508084.1:n.-6-87G>C | |
| ENST00000366683.3:c.129+20G>C | ENSP00000355644.3:n.129+20G>C | |
| ENST00000366684.7:c.129+20G>C MANE Select | ENSP00000355645.3:n.129+20G>C | |
| NM_001100.3:c.129+20G>C , LRG_429t1:c.129+20G>C | NP_001091.1:n.129+20G>C | |
| NM_001100.4:c.129+20G>C MANE Select | NP_001091.1:n.129+20G>C |