OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Linked Data
ClinVar Variation Id:
93736
dbSNP Id:
rs20551
ExAC:
22:41548008 A / G
gnomAD v2:
22-41548008-A-G
gnomAD v3:
22-41152004-A-G
gnomAD v4:
22-41152004-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41152004A>G , CM000684.2:g.41152004A>G | GRCh38 |
| NC_000022.10:g.41548008A>G , CM000684.1:g.41548008A>G | GRCh37 |
| NC_000022.9:g.39877954A>G | NCBI36 |
| NG_009817.1:g.64395A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*909A>G | ENSP00000515365.1:n.*909A>G | |
| ENST00000703545.1:c.2779A>G | ||
| ENST00000263253.9:c.2989A>G MANE Select | ENSP00000263253.7:p.Ile997Val | |
| ENST00000674155.1:c.2911A>G | ENSP00000501078.1:p.Ile971Val | |
| ENST00000263253.8:c.2989A>G | ENSP00000263253.7:p.Ile997Val | |
| NM_001429.3:c.2989A>G | NP_001420.2:p.Ile997Val | |
| XM_006724165.2:c.2911A>G | XP_006724228.1:p.Ile971Val | |
| NM_001362843.1:c.2911A>G | NP_001349772.1:p.Ile971Val | |
| NM_001429.4:c.2989A>G MANE Select | NP_001420.2:p.Ile997Val | |
| NM_001362843.2:c.2911A>G | NP_001349772.1:p.Ile971Val |