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:
533314
dbSNP Id:
rs1328890188
gnomAD v3:
1-45332309-C-T
gnomAD v4:
1-45332309-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332309C>T , CM000663.2:g.45332309C>T | GRCh38 |
| NC_000001.10:g.45797981C>T , CM000663.1:g.45797981C>T | GRCh37 |
| NC_000001.9:g.45570568C>T | NCBI36 |
| NG_008189.1:g.13162G>A , LRG_220:g.13162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.322G>A | ENSP00000410263.2:p.Gly108Ser | |
| ENST00000435155.2:c.739G>A | ENSP00000403655.2:p.Gly247Ser | |
| ENST00000467459.6:c.706G>A | ENSP00000435889.2:p.Gly236Ser | |
| ENST00000483127.2:c.724G>A | ENSP00000436469.2:p.Gly242Ser | |
| ENST00000485271.6:c.706G>A | ENSP00000431264.2:p.Gly236Ser | |
| ENST00000529892.6:c.748G>A | ENSP00000432528.2:p.Gly250Ser | |
| ENST00000533178.6:c.*35G>A | ENSP00000436430.2:n.*35G>A | |
| ENST00000672314.2:c.706G>A | ENSP00000500828.2:p.Gly236Ser | |
| ENST00000674679.2:c.*618G>A | ENSP00000501623.2:n.*618G>A | |
| ENST00000710952.2:c.790G>A MANE Plus Clinical | ENSP00000518552.2:p.Gly264Ser | |
| ENST00000672818.3:c.781G>A | ENSP00000500891.1:p.Gly261Ser | |
| ENST00000450313.6:c.*35G>A | ENSP00000408176.2:n.*35G>A | |
| ENST00000456914.7:c.706G>A MANE Select | ENSP00000407590.2:p.Gly236Ser | |
| ENST00000461495.6:c.*445G>A | ENSP00000437166.1:n.*445G>A | |
| ENST00000671898.1:c.1294G>A | ENSP00000499896.1:p.Gly432Ser | |
| ENST00000672011.1:c.*35G>A | ENSP00000500418.1:n.*35G>A | |
| ENST00000672314.1:c.706G>A | ENSP00000500828.1:p.Gly236Ser | |
| ENST00000672593.1:c.*759G>A | ENSP00000500455.1:n.*759G>A | |
| ENST00000672764.1:c.*35G>A | ENSP00000500886.1:n.*35G>A | |
| ENST00000672818.2:c.781G>A | ENSP00000500891.1:p.Gly261Ser | |
| ENST00000673134.1:c.*403G>A | ENSP00000500526.1:n.*403G>A | |
| ENST00000674679.1:c.734G>A | ENSP00000501623.1:n.734G>A | |
| ENST00000354383.10:c.709G>A | ENSP00000346354.6:p.Gly237Ser | |
| ENST00000355498.6:c.706G>A | ENSP00000347685.2:p.Gly236Ser | |
| ENST00000372098.7:c.781G>A | ENSP00000361170.3:p.Gly261Ser | |
| ENST00000372104.5:c.706G>A | ENSP00000361176.1:p.Gly236Ser | |
| ENST00000372110.7:c.751G>A | ENSP00000361182.3:p.Gly251Ser | |
| ENST00000372115.7:c.748G>A | ENSP00000361187.3:p.Gly250Ser | |
| ENST00000412971.5:c.322G>A | ENSP00000410263.1:p.Gly108Ser | |
| ENST00000435155.1:c.739G>A | ENSP00000403655.1:p.Gly247Ser | |
| ENST00000448481.5:c.739G>A | ENSP00000409718.1:p.Gly247Ser | |
| ENST00000450313.5:c.790G>A | ENSP00000408176.1:p.Gly264Ser | |
| ENST00000456914.6:c.706G>A | ENSP00000407590.2:p.Gly236Ser | |
| ENST00000461495.5:c.*445G>A | ENSP00000437166.1:n.*445G>A | |
| ENST00000462388.5:n.397G>A | ||
| ENST00000466231.1:n.71G>A | ||
| ENST00000467459.5:c.100G>A | ENSP00000435889.1:p.Gly34Ser | |
| ENST00000467940.5:c.*629G>A | ENSP00000436478.1:n.*629G>A | |
| ENST00000470256.5:c.*35G>A | ENSP00000434985.1:n.*35G>A | |
| ENST00000475516.5:c.*519G>A | ENSP00000433843.1:n.*519G>A | |
| ENST00000478796.5:n.693G>A | ||
| ENST00000481571.5:c.*519G>A | ENSP00000436597.1:n.*519G>A | |
| ENST00000488731.6:c.187+454G>A | ENSP00000432330.1:n.187+454G>A | |
| ENST00000528013.6:c.748G>A | ENSP00000433130.2:p.Gly250Ser | |
| ENST00000529984.5:c.187+454G>A | ENSP00000437093.1:n.187+454G>A | |
| ENST00000531105.5:c.115+2082G>A | ENSP00000431292.1:n.115+2082G>A | |
| ENST00000533178.5:c.335G>A | ENSP00000436430.1:n.335G>A | |
| NM_001048171.1:c.748G>A | NP_001041636.1:p.Gly250Ser | |
| NM_001048172.1:c.709G>A | NP_001041637.1:p.Gly237Ser | |
| NM_001048173.1:c.706G>A | NP_001041638.1:p.Gly236Ser | |
| NM_001048174.1:c.706G>A | NP_001041639.1:p.Gly236Ser | |
| NM_001128425.1:c.790G>A , LRG_220t1:c.790G>A | NP_001121897.1:p.Gly264Ser | |
| NM_001293190.1:c.751G>A | NP_001280119.1:p.Gly251Ser | |
| NM_001293191.1:c.739G>A | NP_001280120.1:p.Gly247Ser | |
| NM_001293192.1:c.430G>A | NP_001280121.1:p.Gly144Ser | |
| NM_001293195.1:c.706G>A | NP_001280124.1:p.Gly236Ser | |
| NM_001293196.1:c.430G>A | NP_001280125.1:p.Gly144Ser | |
| NM_012222.2:c.781G>A | NP_036354.1:p.Gly261Ser | |
| XM_011541497.1:c.766G>A | XP_011539799.1:p.Gly256Ser | |
| XM_011541498.1:c.748G>A | XP_011539800.1:p.Gly250Ser | |
| XM_011541499.1:c.748G>A | XP_011539801.1:p.Gly250Ser | |
| XM_011541500.1:c.748G>A | XP_011539802.1:p.Gly250Ser | |
| XM_011541501.1:c.748G>A | XP_011539803.1:p.Gly250Ser | |
| XM_011541502.1:c.748G>A | XP_011539804.1:p.Gly250Ser | |
| XM_011541503.1:c.748G>A | XP_011539805.1:p.Gly250Ser | |
| XM_011541504.1:c.739G>A | XP_011539806.1:p.Gly247Ser | |
| XM_011541505.1:c.328G>A | XP_011539807.1:p.Gly110Ser | |
| XM_011541506.1:c.328G>A | XP_011539808.1:p.Gly110Ser | |
| XM_011541507.1:c.319G>A | XP_011539809.1:p.Gly107Ser | |
| XM_011541508.1:c.334G>A | XP_011539810.1:p.Gly112Ser | |
| XR_946658.1:n.837G>A | ||
| NM_001350650.1:c.361G>A | NP_001337579.1:p.Gly121Ser | |
| NM_001350651.1:c.361G>A | NP_001337580.1:p.Gly121Ser | |
| NR_146882.1:n.964G>A | ||
| NR_146883.1:n.778G>A | ||
| XM_011541497.3:c.766G>A | XP_011539799.1:p.Gly256Ser | |
| XM_011541500.3:c.748G>A | XP_011539802.1:p.Gly250Ser | |
| XM_011541501.2:c.748G>A | XP_011539803.1:p.Gly250Ser | |
| XM_011541502.2:c.748G>A | XP_011539804.1:p.Gly250Ser | |
| XM_011541503.2:c.748G>A | XP_011539805.1:p.Gly250Ser | |
| XM_011541504.2:c.739G>A | XP_011539806.1:p.Gly247Ser | |
| XM_011541505.2:c.328G>A | XP_011539807.1:p.Gly110Ser | |
| XM_011541506.2:c.328G>A | XP_011539808.1:p.Gly110Ser | |
| XM_017001331.1:c.748G>A | XP_016856820.1:p.Gly250Ser | |
| XM_017001332.1:c.748G>A | XP_016856821.1:p.Gly250Ser | |
| XM_017001333.1:c.748G>A | XP_016856822.1:p.Gly250Ser | |
| XM_017001334.1:c.709G>A | XP_016856823.1:p.Gly237Ser | |
| XM_017001335.1:c.430G>A | XP_016856824.1:p.Gly144Ser | |
| XM_017001336.1:c.361G>A | XP_016856825.1:p.Gly121Ser | |
| XM_017001337.1:c.361G>A | XP_016856826.1:p.Gly121Ser | |
| XM_024447244.1:c.361G>A | XP_024303012.1:p.Gly121Ser | |
| XM_024447245.1:c.361G>A | XP_024303013.1:p.Gly121Ser | |
| XM_024447248.1:c.319G>A | XP_024303016.1:p.Gly107Ser | |
| XM_024447249.1:c.190G>A | XP_024303017.1:p.Gly64Ser | |
| XM_024447250.1:c.190G>A | XP_024303018.1:p.Gly64Ser | |
| XM_024447251.1:c.190G>A | XP_024303019.1:p.Gly64Ser | |
| XR_001737190.1:n.751G>A | ||
| XR_001737192.1:n.563G>A | ||
| XR_002956643.1:n.743G>A | ||
| XR_002956644.1:n.1278G>A | ||
| XR_946658.2:n.851G>A | ||
| NM_001048171.2:c.706G>A | NP_001041636.2:p.Gly236Ser | |
| NM_001128425.2:c.790G>A MANE Plus Clinical | NP_001121897.1:p.Gly264Ser | |
| NM_001048172.2:c.709G>A | NP_001041637.1:p.Gly237Ser | |
| NM_001048173.2:c.706G>A | NP_001041638.1:p.Gly236Ser | |
| NM_001048174.2:c.706G>A MANE Select | NP_001041639.1:p.Gly236Ser | |
| NM_001293190.2:c.751G>A | NP_001280119.1:p.Gly251Ser | |
| NM_001293191.2:c.739G>A | NP_001280120.1:p.Gly247Ser | |
| NM_001293192.2:c.430G>A | NP_001280121.1:p.Gly144Ser | |
| NM_001293195.2:c.706G>A | NP_001280124.1:p.Gly236Ser | |
| NM_001293196.2:c.430G>A | NP_001280125.1:p.Gly144Ser | |
| NM_001350650.2:c.361G>A | NP_001337579.1:p.Gly121Ser | |
| NM_001350651.2:c.361G>A | NP_001337580.1:p.Gly121Ser | |
| NM_012222.3:c.781G>A | NP_036354.1:p.Gly261Ser | |
| NR_146882.2:n.934G>A | ||
| NR_146883.2:n.783G>A |