Linked Data
dbSNP Id:
rs613808
gnomAD v2:
11-116710968-A-G
gnomAD v3:
11-116840252-A-G
gnomAD v4:
11-116840252-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116840252A>G , CM000673.2:g.116840252A>G | GRCh38 |
| NC_000011.9:g.116710968A>G , CM000673.1:g.116710968A>G | GRCh37 |
| NC_000011.8:g.116216178A>G | NCBI36 |
| NG_012021.1:g.2371T>C , LRG_767:g.2371T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_126362.1:n.123+4013A>G |