Canonical Allele Identifier:
CA155829829
Gene:
Linked Data
dbSNP Id:
rs16475
gnomAD v2:
7-24331486-A-G
gnomAD v3:
7-24291867-A-G
gnomAD v4:
7-24291867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24291867A>G , CM000669.2:g.24291867A>G | GRCh38 |
| NC_000007.13:g.24331486A>G , CM000669.1:g.24331486A>G | GRCh37 |
| NC_000007.12:g.24298011A>G | NCBI36 |
| NG_016148.1:g.12680A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017012910.1:c.41+27490T>C | XP_016868399.1:n.41+27490T>C | |
| XM_017012911.1:c.41+27490T>C | XP_016868400.1:n.41+27490T>C | |
| XR_001745121.1:n.473+27490T>C | ||
| XR_001745122.1:n.345-94838T>C | ||
| XR_001745123.1:n.473+27490T>C | ||
| XR_001745124.1:n.473+27490T>C | ||
| XR_001745125.1:n.473+27490T>C | ||
| XR_001745126.1:n.473+27490T>C | ||
| XR_001745127.1:n.345-36168T>C | ||
| XR_001745129.1:n.473+27490T>C | ||
| XR_001745130.1:n.473+27490T>C | ||
| XR_001745131.1:n.473+27490T>C | ||
| XR_001745132.1:n.473+27490T>C |