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:
CA1080214510
Gene:
Linked Data
ClinVar Variation Id:
1040861
ClinVar RCV Id:
RCV003770951
dbSNP Id:
rs1232455560
gnomAD v3:
5-112707346-G-C
gnomAD v4:
5-112707346-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707346G>C , CM000667.2:g.112707346G>C | GRCh38 |
| NC_000005.9:g.112043043G>C , CM000667.1:g.112043043G>C | GRCh37 |
| NC_000005.8:g.112070942G>C | NCBI36 |
| NG_008481.4:g.19826G>C , LRG_130:g.19826G>C |