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:
CA237330480
Gene:
Linked Data
ClinVar Variation Id:
1281922
ClinVar RCV Id:
RCV001693906
dbSNP Id:
rs75451585
gnomAD v2:
12-53701054-T-C
gnomAD v3:
12-53307270-T-C
gnomAD v4:
12-53307270-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307270T>C , CM000674.2:g.53307270T>C | GRCh38 |
| NC_000012.11:g.53701054T>C , CM000674.1:g.53701054T>C | GRCh37 |
| NC_000012.10:g.51987321T>C | NCBI36 |
| NG_016775.1:g.19359A>G |