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:
9128
ClinVar RCV Id:
RCV000009699
dbSNP Id:
rs56141211
ExAC:
6:10626680 G / A
gnomAD v2:
6-10626680-G-A
gnomAD v4:
6-10626447-G-A
MyVariant Identifiers:
chr6:g.10626680G>A (hg19)
chr6:g.10626680_10626681delinsAA (hg19)
chr6:g.10626447G>A (hg38)
chr6:g.10626447_10626448delinsAA (hg38)
PubMed:
PMID:11739194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10626447G>A , CM000668.2:g.10626447G>A | GRCh38 |
| NC_000006.11:g.10626680G>A , CM000668.1:g.10626680G>A | GRCh37 |
| NC_000006.10:g.10734666G>A | NCBI36 |
| NG_007469.3:g.139225G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265012.5:c.1049G>A | ENSP00000265012.4:p.Gly350Glu | |
| ENST00000316170.9:c.1043G>A MANE Plus Clinical | ENSP00000314844.3:p.Gly348Glu | |
| ENST00000397423.7:n.608G>A | ||
| ENST00000495262.7:c.1049G>A MANE Select | ENSP00000419411.2:p.Gly350Glu | |
| ENST00000265012.4:c.1049G>A | ENSP00000265012.4:p.Gly350Glu | |
| ENST00000316170.7:c.1043G>A | ENSP00000314844.3:p.Gly348Glu | |
| ENST00000379597.7:c.1049G>A | ENSP00000368917.3:p.Gly350Glu | |
| ENST00000397423.6:n.608G>A | ||
| ENST00000410107.5:c.191G>A | ENSP00000386321.1:p.Gly64Glu | |
| ENST00000475577.5:n.378G>A | ||
| ENST00000485764.1:n.591G>A | ||
| ENST00000489225.5:n.407G>A | ||
| ENST00000489819.5:n.299G>A | ||
| ENST00000495262.5:c.1049G>A | ENSP00000419411.1:p.Gly350Glu | |
| NM_001491.2:c.1043G>A | NP_001482.1:p.Gly348Glu | |
| NM_145649.4:c.1049G>A | NP_663624.1:p.Gly350Glu | |
| NM_145655.3:c.1049G>A | NP_663630.2:p.Gly350Glu | |
| XM_005248999.2:c.818G>A | XP_005249056.1:p.Gly273Glu | |
| XM_006715052.2:c.1049G>A | XP_006715115.1:p.Gly350Glu | |
| XM_011514467.1:c.818G>A | XP_011512769.1:p.Gly273Glu | |
| XM_006715052.3:c.1049G>A | XP_006715115.1:p.Gly350Glu | |
| NM_001374747.1:c.1049G>A | NP_001361676.1:p.Gly350Glu | |
| NM_001491.3:c.1043G>A MANE Plus Clinical | NP_001482.1:p.Gly348Glu | |
| NM_145649.5:c.1049G>A MANE Select | NP_663624.1:p.Gly350Glu | |
| NM_145655.4:c.1049G>A | NP_663630.2:p.Gly350Glu |