Linked Data
dbSNP Id:
rs1017877899
gnomAD v2:
8-96515690-A-G
gnomAD v3:
8-95503462-A-G
gnomAD v4:
8-95503462-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95503462A>G , CM000670.2:g.95503462A>G | GRCh38 |
| NC_000008.10:g.96515690A>G , CM000670.1:g.96515690A>G | GRCh37 |
| NC_000008.9:g.96584866A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038201.1:n.281+70682A>G | ||
| NR_038202.1:n.210+70682A>G | ||
| NR_038203.1:n.127-107202A>G | ||
| NR_038204.1:n.56-107202A>G | ||
| NR_038205.1:n.56-107202A>G | ||
| NR_038206.1:n.56-107202A>G | ||
| NR_038207.1:n.210+70682A>G | ||
| NR_038208.1:n.126+202270A>G | ||
| NR_038209.1:n.219-107202A>G |