Linked Data
ClinVar Variation Id:
1619986
ClinVar RCV Id:
RCV002098882
dbSNP Id:
rs1759252699
gnomAD v4:
6-24503453-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503453A>G , CM000668.2:g.24503453A>G | GRCh38 |
| NC_000006.11:g.24503681A>G , CM000668.1:g.24503681A>G | GRCh37 |
| NC_000006.10:g.24611660A>G | NCBI36 |
| NG_008161.1:g.13485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.609+20A>G MANE Select | ENSP00000350191.3:n.609+20A>G | |
| ENST00000672352.1:c.372+20A>G | ENSP00000500876.1:n.372+20A>G | |
| ENST00000672557.1:c.527+20A>G | ||
| ENST00000672652.1:c.530+20A>G | ||
| ENST00000675422.1:n.1369+20A>G | ||
| ENST00000348925.2:c.609+20A>G | ENSP00000314649.3:n.609+20A>G | |
| ENST00000357578.7:c.609+20A>G | ENSP00000350191.3:n.609+20A>G | |
| ENST00000491546.5:c.525+20A>G | ENSP00000417687.1:n.525+20A>G | |
| NM_001080.3:c.609+20A>G MANE Select | NP_001071.1:n.609+20A>G | |
| NM_170740.1:c.609+20A>G | NP_733936.1:n.609+20A>G | |
| NM_001368954.1:c.609+20A>G | NP_001355883.1:n.609+20A>G |