Linked Data
ClinVar Variation Id:
225963
dbSNP Id:
rs1799978
gnomAD v2:
11-113346351-T-C
gnomAD v3:
11-113475629-T-C
gnomAD v4:
11-113475629-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475629T>C , CM000673.2:g.113475629T>C | GRCh38 |
| NC_000011.9:g.113346351T>C , CM000673.1:g.113346351T>C | GRCh37 |
| NC_000011.8:g.112851561T>C | NCBI36 |
| NG_008841.1:g.4651A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540600.5:n.34+29A>G | ||
| XR_948024.2:n.813A>G |