Linked Data
dbSNP Id:
rs577164727
gnomAD v2:
2-204721670-C-A
gnomAD v3:
2-203856947-C-A
gnomAD v4:
2-203856947-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203856947C>A , CM000664.2:g.203856947C>A | GRCh38 |
| NC_000002.11:g.204721670C>A , CM000664.1:g.204721670C>A | GRCh37 |
| NC_000002.10:g.204429915C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696479.1:c.47+2871C>A | ENSP00000512655.1:n.47+2871C>A | |
| XR_923797.1:n.225-5526C>A |