Linked Data
ClinVar Variation Id:
1287136
ClinVar RCV Id:
RCV001708761
dbSNP Id:
rs2295117
gnomAD v2:
1-32671065-A-C
gnomAD v3:
1-32205464-A-C
gnomAD v4:
1-32205464-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32205464A>C , CM000663.2:g.32205464A>C | GRCh38 |
| NC_000001.10:g.32671065A>C , CM000663.1:g.32671065A>C | GRCh37 |
| NC_000001.9:g.32443652A>C | NCBI36 |
| NG_012178.1:g.9864A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005271044.3:c.*2377T>G | XP_005271101.1:n.*2377T>G | |
| XM_006710776.2:c.*1973T>G | XP_006710839.1:n.*1973T>G | |
| XM_011541793.1:c.*1727T>G | XP_011540095.1:n.*1727T>G | |
| XM_011541794.1:c.*1743T>G | XP_011540096.1:n.*1743T>G | |
| XM_011541795.2:c.*2681T>G | XP_011540097.1:n.*2681T>G | |
| XM_017001814.1:c.*1386T>G | XP_016857303.1:n.*1386T>G | |
| XM_017001815.1:c.*1727T>G | XP_016857304.1:n.*1727T>G | |
| XM_017001827.1:c.*2814T>G | XP_016857316.1:n.*2814T>G | |
| XM_017001828.1:c.*2084T>G | XP_016857317.1:n.*2084T>G |