Canonical Allele Identifier:
CA12501190
Gene:
Linked Data
dbSNP Id:
rs745580
gnomAD v2:
7-26008052-G-A
gnomAD v3:
7-25968432-G-A
gnomAD v4:
7-25968432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.25968432G>A , CM000669.2:g.25968432G>A | GRCh38 |
| NC_000007.13:g.26008052G>A , CM000669.1:g.26008052G>A | GRCh37 |
| NC_000007.12:g.25974577G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_927113.1:n.1492-12933C>T | ||
| XR_927114.1:n.1492-28971C>T | ||
| XR_927115.1:n.1583-12933C>T | ||
| XR_927116.1:n.983-12933C>T | ||
| XR_927117.1:n.1336-12933C>T | ||
| XR_927118.1:n.1580-12933C>T | ||
| XR_927119.1:n.1243-12933C>T | ||
| XR_927120.1:n.1228-28971C>T | ||
| XR_927122.1:n.718-28971C>T | ||
| XR_927123.1:n.1201-12933C>T | ||
| XR_927113.2:n.1519-12933C>T | ||
| XR_927114.2:n.1519-28971C>T | ||
| XR_927116.2:n.1013-12933C>T | ||
| XR_927117.2:n.1364-12933C>T | ||
| XR_927119.2:n.1850-12933C>T | ||
| XR_927120.2:n.1256-28971C>T | ||
| XR_927122.2:n.750-28971C>T | ||
| XR_927123.2:n.1224-12933C>T |