Canonical Allele Identifier:
CA12843498
Gene:
Linked Data
dbSNP Id:
rs1835740
gnomAD v2:
8-98166913-T-C
gnomAD v3:
8-97154685-T-C
gnomAD v4:
8-97154685-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.97154685T>C , CM000670.2:g.97154685T>C | GRCh38 |
| NC_000008.10:g.98166913T>C , CM000670.1:g.98166913T>C | GRCh37 |
| NC_000008.9:g.98236089T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125390.1:n.472-201075A>G | ||
| XR_928434.1:n.1748+4013T>C | ||
| XR_928435.1:n.1748+4013T>C | ||
| XR_928434.2:n.1770+4013T>C |