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:
14519
ClinVar RCV Id:
RCV001174241
RCV000653937
RCV001257937
RCV001188431
RCV002336085
RCV000015616
RCV000057255
dbSNP Id:
rs58672172
ExAC:
1:156106042 C / T
gnomAD v2:
1-156106042-C-T
gnomAD v3:
1-156136251-C-T
gnomAD v4:
1-156136251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156136251C>T , CM000663.2:g.156136251C>T | GRCh38 |
| NC_000001.10:g.156106042C>T , CM000663.1:g.156106042C>T | GRCh37 |
| NC_000001.9:g.154372666C>T | NCBI36 |
| NG_008692.2:g.58679C>T , LRG_254:g.58679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.637C>T | ENSP00000426535.3:p.Arg213Cys | |
| ENST00000498722.3:n.427C>T | ||
| ENST00000682650.1:c.1195C>T | ENSP00000506904.1:p.Arg399Cys | |
| ENST00000683032.1:c.1195C>T | ENSP00000506771.1:p.Arg399Cys | |
| ENST00000684195.1:c.1195C>T | ENSP00000508220.1:p.Arg399Cys | |
| ENST00000361308.9:c.1195C>T | ENSP00000355292.6:p.Arg399Cys | |
| ENST00000368300.9:c.1195C>T MANE Select | ENSP00000357283.4:p.Arg399Cys | |
| ENST00000496738.6:n.1570C>T | ||
| ENST00000674518.1:c.*545C>T | ENSP00000502261.1:n.*545C>T | |
| ENST00000674600.1:c.*994C>T | ENSP00000501666.1:n.*994C>T | |
| ENST00000674720.1:c.1195C>T | ENSP00000502798.1:p.Arg399Cys | |
| ENST00000675431.1:n.888C>T | ||
| ENST00000675455.1:c.*995C>T | ENSP00000501795.1:n.*995C>T | |
| ENST00000675667.1:c.1195C>T | ENSP00000501803.1:p.Arg399Cys | |
| ENST00000675874.1:c.*666C>T | ENSP00000501851.1:n.*666C>T | |
| ENST00000675881.1:c.*206C>T | ENSP00000501670.1:n.*206C>T | |
| ENST00000675939.1:c.1195C>T | ENSP00000502256.1:p.Arg399Cys | |
| ENST00000675989.1:n.1570C>T | ||
| ENST00000676208.1:c.*298C>T | ENSP00000502468.1:n.*298C>T | |
| ENST00000676283.1:n.1570C>T | ||
| ENST00000676385.2:c.1195C>T | ENSP00000502091.1:p.Arg399Cys | |
| ENST00000676434.1:c.*206C>T | ENSP00000501648.1:n.*206C>T | |
| ENST00000677389.1:c.1195C>T MANE Plus Clinical | ENSP00000503633.1:p.Arg399Cys | |
| ENST00000347559.6:c.1195C>T | ENSP00000292304.3:p.Arg399Cys | |
| ENST00000361308.8:c.1195C>T | ENSP00000355292.5:p.Arg399Cys | |
| ENST00000368297.5:c.952C>T | ENSP00000357280.1:p.Arg318Cys | |
| ENST00000368298.2:n.459C>T | ||
| ENST00000368299.7:c.1195C>T | ENSP00000357282.3:p.Arg399Cys | |
| ENST00000368300.8:c.1195C>T | ENSP00000357283.4:p.Arg399Cys | |
| ENST00000368301.6:c.1195C>T | ENSP00000357284.2:p.Arg399Cys | |
| ENST00000448611.6:c.859C>T | ENSP00000395597.2:p.Arg287Cys | |
| ENST00000473598.6:c.898C>T | ENSP00000421821.1:p.Arg300Cys | |
| ENST00000496738.5:n.580C>T | ||
| ENST00000498722.2:n.427C>T | ||
| ENST00000508500.1:c.73C>T | ENSP00000424977.1:p.Arg25Cys | |
| NM_001257374.2:c.859C>T | NP_001244303.1:p.Arg287Cys | |
| NM_001282624.1:c.952C>T | NP_001269553.1:p.Arg318Cys | |
| NM_001282625.1:c.1195C>T | NP_001269554.1:p.Arg399Cys | |
| NM_001282626.1:c.1195C>T | NP_001269555.1:p.Arg399Cys | |
| NM_005572.3:c.1195C>T , LRG_254t1:c.1195C>T | NP_005563.1:p.Arg399Cys | |
| NM_170707.3:c.1195C>T | NP_733821.1:p.Arg399Cys | |
| NM_170708.3:c.1195C>T | NP_733822.1:p.Arg399Cys | |
| XM_011509533.1:c.859C>T | XP_011507835.1:p.Arg287Cys | |
| XM_011509534.1:c.571C>T | XP_011507836.1:p.Arg191Cys | |
| XR_921781.1:n.1484C>T | ||
| XM_011509534.2:c.571C>T | XP_011507836.1:p.Arg191Cys | |
| XR_921781.2:n.1482C>T | ||
| NM_170707.4:c.1195C>T MANE Select | NP_733821.1:p.Arg399Cys | |
| NM_001257374.3:c.859C>T | NP_001244303.1:p.Arg287Cys | |
| NM_001282626.2:c.1195C>T | NP_001269555.1:p.Arg399Cys | |
| NM_001282624.2:c.952C>T | NP_001269553.1:p.Arg318Cys | |
| NM_001282625.2:c.1195C>T | NP_001269554.1:p.Arg399Cys | |
| NM_005572.4:c.1195C>T MANE Plus Clinical | NP_005563.1:p.Arg399Cys | |
| NM_170708.4:c.1195C>T | NP_733822.1:p.Arg399Cys |