Linked Data
ClinVar Variation Id:
2086172
ClinVar RCV Id:
RCV003007352
dbSNP Id:
rs745416646
gnomAD v2:
9-35657934-T-C
gnomAD v3:
9-35657937-T-C
gnomAD v4:
9-35657937-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35657937T>C , CM000671.2:g.35657937T>C | GRCh38 |
| NC_000009.11:g.35657934T>C , CM000671.1:g.35657934T>C | GRCh37 |
| NC_000009.10:g.35647934T>C | NCBI36 |
| NG_017041.1:g.5082A>G , LRG_163:g.5082A>G | |
| NG_033120.1:g.4648T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003051.3:n.82A>G , LRG_163t1:n.82A>G |