Canonical Allele Identifier:
CA155828860
Gene:
Linked Data
dbSNP Id:
rs996023513
gnomAD v2:
7-24323412-G-C
gnomAD v3:
7-24283793-G-C
gnomAD v4:
7-24283793-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283793G>C , CM000669.2:g.24283793G>C | GRCh38 |
| NC_000007.13:g.24323412G>C , CM000669.1:g.24323412G>C | GRCh37 |
| NC_000007.12:g.24289937G>C | NCBI36 |
| NG_016148.1:g.4606G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017012910.1:c.42-28094C>G | XP_016868399.1:n.42-28094C>G | |
| XM_017012911.1:c.42-28094C>G | XP_016868400.1:n.42-28094C>G | |
| XR_001745121.1:n.473+35564C>G | ||
| XR_001745122.1:n.345-86764C>G | ||
| XR_001745123.1:n.473+35564C>G | ||
| XR_001745124.1:n.473+35564C>G | ||
| XR_001745125.1:n.473+35564C>G | ||
| XR_001745126.1:n.473+35564C>G | ||
| XR_001745127.1:n.345-28094C>G | ||
| XR_001745129.1:n.473+35564C>G | ||
| XR_001745130.1:n.473+35564C>G | ||
| XR_001745131.1:n.473+35564C>G | ||
| XR_001745132.1:n.473+35564C>G |