SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Canonical Allele Identifier:
CA283273041
Gene:
Linked Data
ClinVar Variation Id:
676637
ClinVar RCV Id:
RCV000836093
dbSNP Id:
rs28372783
gnomAD v2:
16-68771122-A-C
gnomAD v3:
16-68737219-A-C
gnomAD v4:
16-68737219-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737219A>C , CM000678.2:g.68737219A>C | GRCh38 |
| NC_000016.9:g.68771122A>C , CM000678.1:g.68771122A>C | GRCh37 |
| NC_000016.8:g.67328623A>C | NCBI36 |
| NG_008021.1:g.4928A>C , LRG_301:g.4928A>C |