Canonical Allele Identifier:
CA573373507
Gene:
Linked Data
dbSNP Id:
rs1346530434
gnomAD v2:
7-24323302-C-A
gnomAD v3:
7-24283683-C-A
gnomAD v4:
7-24283683-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283683C>A , CM000669.2:g.24283683C>A | GRCh38 |
| NC_000007.13:g.24323302C>A , CM000669.1:g.24323302C>A | GRCh37 |
| NC_000007.12:g.24289827C>A | NCBI36 |
| NG_016148.1:g.4496C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017012910.1:c.42-27984G>T | XP_016868399.1:n.42-27984G>T | |
| XM_017012911.1:c.42-27984G>T | XP_016868400.1:n.42-27984G>T | |
| XR_001745121.1:n.473+35674G>T | ||
| XR_001745122.1:n.345-86654G>T | ||
| XR_001745123.1:n.473+35674G>T | ||
| XR_001745124.1:n.473+35674G>T | ||
| XR_001745125.1:n.473+35674G>T | ||
| XR_001745126.1:n.473+35674G>T | ||
| XR_001745127.1:n.345-27984G>T | ||
| XR_001745129.1:n.473+35674G>T | ||
| XR_001745130.1:n.473+35674G>T | ||
| XR_001745131.1:n.473+35674G>T | ||
| XR_001745132.1:n.473+35674G>T |