Linked Data
ClinVar Variation Id:
294878
ClinVar RCV Id:
RCV000363395
dbSNP Id:
rs61819987
gnomAD v2:
1-201301674-C-G
gnomAD v3:
1-201332546-C-G
gnomAD v4:
1-201332546-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201332546C>G , CM000663.2:g.201332546C>G | GRCh38 |
| NC_000001.10:g.201301674C>G , CM000663.1:g.201301674C>G | GRCh37 |
| NC_000001.9:g.199568297C>G | NCBI36 |
| NG_023337.1:g.54095C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.*2505C>G MANE Select | ENSP00000356293.4:n.*2505C>G | |
| ENST00000263946.7:c.*2505C>G | ENSP00000263946.3:n.*2505C>G | |
| ENST00000367324.7:c.*2505C>G | ENSP00000356293.3:n.*2505C>G | |
| NM_000299.3:c.*2505C>G | NP_000290.2:n.*2505C>G | |
| NM_001005337.2:c.*2505C>G | NP_001005337.1:n.*2505C>G | |
| NM_001005337.3:c.*2505C>G MANE Select | NP_001005337.1:n.*2505C>G | |
| NM_000299.4:c.*2505C>G | NP_000290.2:n.*2505C>G |