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:
13119
ClinVar RCV Id:
RCV000013998
RCV000085196
RCV000665910
RCV000986331
RCV001278137
RCV002265555
RCV003460469
dbSNP Id:
rs61752878
ExAC:
1:68910315 C / T
gnomAD v2:
1-68910315-C-T
gnomAD v3:
1-68444632-C-T
gnomAD v4:
1-68444632-C-T
ERepo:
CA226547/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444632C>T , CM000663.2:g.68444632C>T | GRCh38 |
| NC_000001.10:g.68910315C>T , CM000663.1:g.68910315C>T | GRCh37 |
| NC_000001.9:g.68682903C>T | NCBI36 |
| NG_008472.1:g.10328G>A | |
| NG_008472.2:g.10328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.394G>A MANE Select | ENSP00000262340.5:p.Ala132Thr | |
| ENST00000262340.5:c.394G>A | ENSP00000262340.5:p.Ala132Thr | |
| NM_000329.2:c.394G>A | NP_000320.1:p.Ala132Thr | |
| XM_017002027.1:c.118G>A | XP_016857516.1:p.Ala40Thr | |
| NM_000329.3:c.394G>A MANE Select | NP_000320.1:p.Ala132Thr |