Canonical Allele Identifier:
CA573373497
Gene:
Linked Data
dbSNP Id:
rs1272211424
gnomAD v2:
7-24323190-A-C
gnomAD v3:
7-24283571-A-C
gnomAD v4:
7-24283571-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283571A>C , CM000669.2:g.24283571A>C | GRCh38 |
| NC_000007.13:g.24323190A>C , CM000669.1:g.24323190A>C | GRCh37 |
| NC_000007.12:g.24289715A>C | NCBI36 |
| NG_016148.1:g.4384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012910.1:c.42-27872T>G | XP_016868399.1:n.42-27872T>G | |
| XM_017012911.1:c.42-27872T>G | XP_016868400.1:n.42-27872T>G | |
| XR_001745121.1:n.473+35786T>G | ||
| XR_001745122.1:n.345-86542T>G | ||
| XR_001745123.1:n.473+35786T>G | ||
| XR_001745124.1:n.473+35786T>G | ||
| XR_001745125.1:n.473+35786T>G | ||
| XR_001745126.1:n.473+35786T>G | ||
| XR_001745127.1:n.345-27872T>G | ||
| XR_001745129.1:n.473+35786T>G | ||
| XR_001745130.1:n.473+35786T>G | ||
| XR_001745131.1:n.473+35786T>G | ||
| XR_001745132.1:n.473+35786T>G |