Linked Data
ClinVar Variation Id:
1238552
ClinVar RCV Id:
RCV001638955
dbSNP Id:
rs73336657
gnomAD v2:
10-104263624-T-G
gnomAD v3:
10-102503867-T-G
gnomAD v4:
10-102503867-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102503867T>G , CM000672.2:g.102503867T>G | GRCh38 |
| NC_000010.10:g.104263624T>G , CM000672.1:g.104263624T>G | GRCh37 |
| NC_000010.9:g.104253614T>G | NCBI36 |
| NG_011901.1:g.3889A>C | |
| NG_021338.1:g.4906T>G , LRG_521:g.4906T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011539859.1:c.-29-257T>G | XP_011538161.1:n.-29-257T>G | |
| XM_011539863.1:c.8+881T>G | XP_011538165.1:n.8+881T>G | |
| XM_011539863.3:c.8+881T>G | XP_011538165.1:n.8+881T>G |