Linked Data
dbSNP Id:
rs3094117
gnomAD v2:
6-30737486-A-C
gnomAD v3:
6-30769709-A-C
gnomAD v4:
6-30769709-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30769709A>C , CM000668.2:g.30769709A>C | GRCh38 |
| NC_000006.11:g.30737486A>C , CM000668.1:g.30737486A>C | GRCh37 |
| NC_000006.10:g.30845465A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926688.1:n.79-18982A>C | ||
| NR_138037.1:n.127+2758A>C |