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:
13179
ClinVar RCV Id:
RCV000014067
RCV000084955
RCV000987699
RCV001039794
RCV001075450
RCV001250276
RCV001250291
RCV003987319
dbSNP Id:
rs61755771
ExAC:
6:42689937 G / A
gnomAD v2:
6-42689937-G-A
gnomAD v3:
6-42722199-G-A
gnomAD v4:
6-42722199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722199G>A , CM000668.2:g.42722199G>A | GRCh38 |
| NC_000006.11:g.42689937G>A , CM000668.1:g.42689937G>A | GRCh37 |
| NC_000006.10:g.42797915G>A | NCBI36 |
| NG_009176.1:g.5422C>T | |
| NG_009176.2:g.5422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.136C>T MANE Select | ENSP00000230381.5:p.Arg46Ter | |
| ENST00000230381.6:c.136C>T | ENSP00000230381.5:p.Arg46Ter | |
| NM_000322.4:c.136C>T | NP_000313.2:p.Arg46Ter | |
| XR_427834.2:n.791C>T | ||
| XR_926295.1:n.791C>T | ||
| XR_427834.4:n.841C>T | ||
| XR_926295.3:n.841C>T | ||
| NM_000322.5:c.136C>T MANE Select | NP_000313.2:p.Arg46Ter |