Linked Data
dbSNP Id:
rs2240571
gnomAD v2:
7-12609988-G-C
gnomAD v3:
7-12570362-G-C
gnomAD v4:
7-12570362-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.12570362G>C , CM000669.2:g.12570362G>C | GRCh38 |
| NC_000007.13:g.12609988G>C , CM000669.1:g.12609988G>C | GRCh37 |
| NC_000007.12:g.12576513G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926951.1:n.14G>C | ||
| XR_001745095.1:n.726-338C>G | ||
| XR_001745096.1:n.726-642C>G |