SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Canonical Allele Identifier:
CA124924548
Gene:
Linked Data
ClinVar Variation Id:
1019845
ClinVar RCV Id:
RCV003652165
dbSNP Id:
rs113077479
gnomAD v4:
5-112707362-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707362T>C , CM000667.2:g.112707362T>C | GRCh38 |
| NC_000005.9:g.112043059T>C , CM000667.1:g.112043059T>C | GRCh37 |
| NC_000005.8:g.112070958T>C | NCBI36 |
| NG_008481.4:g.19842T>C , LRG_130:g.19842T>C |