Linked Data
ClinVar Variation Id:
1232204
ClinVar RCV Id:
RCV001612836
dbSNP Id:
rs1772823
gnomAD v2:
1-201286628-C-G
gnomAD v3:
1-201317500-C-G
gnomAD v4:
1-201317500-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317500C>G , CM000663.2:g.201317500C>G | GRCh38 |
| NC_000001.10:g.201286628C>G , CM000663.1:g.201286628C>G | GRCh37 |
| NC_000001.9:g.199553251C>G | NCBI36 |
| NG_023337.1:g.39049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.847-72C>G MANE Select | ENSP00000356293.4:n.847-72C>G | |
| ENST00000263946.7:c.847-72C>G | ENSP00000263946.3:n.847-72C>G | |
| ENST00000352845.3:c.847-72C>G | ENSP00000295597.3:n.847-72C>G | |
| ENST00000367324.7:c.847-72C>G | ENSP00000356293.3:n.847-72C>G | |
| ENST00000475988.1:n.189-72C>G | ||
| ENST00000622031.4:c.844-72C>G | ENSP00000482213.1:n.844-72C>G | |
| NM_000299.3:c.847-72C>G | NP_000290.2:n.847-72C>G | |
| NM_001005337.2:c.847-72C>G | NP_001005337.1:n.847-72C>G | |
| NM_001005337.3:c.847-72C>G MANE Select | NP_001005337.1:n.847-72C>G | |
| NM_000299.4:c.847-72C>G | NP_000290.2:n.847-72C>G |