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:
230824
dbSNP Id:
rs373917897
gnomAD v2:
7-6026957-C-G
gnomAD v4:
7-5987326-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987326C>G , CM000669.2:g.5987326C>G | GRCh38 |
| NC_000007.13:g.6026957C>G , CM000669.1:g.6026957C>G | GRCh37 |
| NC_000007.12:g.5993483C>G | NCBI36 |
| NG_008466.1:g.26781G>C , LRG_161:g.26781G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*835G>C | ENSP00000514615.2:n.*835G>C | |
| ENST00000699840.2:c.1436G>C | ENSP00000514638.2:p.Gly479Ala | |
| ENST00000699930.2:c.1331G>C | ENSP00000514695.2:p.Gly444Ala | |
| ENST00000406569.8:c.1439G>C | ENSP00000514464.1:p.Gly480Ala | |
| ENST00000644110.2:c.*1033G>C | ENSP00000496392.2:n.*1033G>C | |
| ENST00000699752.1:c.1283G>C | ENSP00000514561.1:p.Gly428Ala | |
| ENST00000699753.1:c.*860G>C | ENSP00000514562.1:n.*860G>C | |
| ENST00000699754.1:c.1241G>C | ENSP00000514563.1:p.Gly414Ala | |
| ENST00000699755.1:c.*838G>C | ENSP00000514564.1:n.*838G>C | |
| ENST00000699756.1:c.*1026G>C | ENSP00000514565.1:n.*1026G>C | |
| ENST00000699757.1:c.*696G>C | ENSP00000514566.1:n.*696G>C | |
| ENST00000699758.1:c.*696G>C | ENSP00000514567.1:n.*696G>C | |
| ENST00000699759.1:n.2293G>C | ||
| ENST00000699760.1:c.1121G>C | ENSP00000514568.1:p.Gly374Ala | |
| ENST00000699761.1:c.1034G>C | ENSP00000514569.1:p.Gly345Ala | |
| ENST00000699762.1:c.866G>C | ENSP00000514570.1:p.Gly289Ala | |
| ENST00000699763.1:c.*529G>C | ENSP00000514571.1:n.*529G>C | |
| ENST00000699764.1:c.1439G>C | ENSP00000514572.1:p.Gly480Ala | |
| ENST00000699765.1:c.*535G>C | ENSP00000514573.1:n.*535G>C | |
| ENST00000699766.1:c.1439G>C | ENSP00000514574.1:p.Gly480Ala | |
| ENST00000699767.1:c.1439G>C | ENSP00000514575.1:p.Gly480Ala | |
| ENST00000699768.1:c.1439G>C | ENSP00000514576.1:p.Gly480Ala | |
| ENST00000699811.1:c.1034G>C | ENSP00000514614.1:p.Gly345Ala | |
| ENST00000699813.1:n.1552G>C | ||
| ENST00000699814.1:c.1062G>C | ||
| ENST00000699815.1:c.*970G>C | ENSP00000514616.1:n.*970G>C | |
| ENST00000699816.1:c.*329G>C | ENSP00000514617.1:n.*329G>C | |
| ENST00000699817.1:c.*1033G>C | ENSP00000514618.1:n.*1033G>C | |
| ENST00000699818.1:c.1034G>C | ENSP00000514619.1:p.Gly345Ala | |
| ENST00000699819.1:c.*596G>C | ENSP00000514620.1:n.*596G>C | |
| ENST00000699820.1:c.1144+2474G>C | ENSP00000514621.1:n.1144+2474G>C | |
| ENST00000699821.1:c.1034G>C | ENSP00000514622.1:p.Gly345Ala | |
| ENST00000699822.1:c.*891G>C | ENSP00000514623.1:n.*891G>C | |
| ENST00000699823.1:c.1034G>C | ENSP00000514624.1:p.Gly345Ala | |
| ENST00000699824.1:c.*942G>C | ENSP00000514625.1:n.*942G>C | |
| ENST00000699825.1:c.878G>C | ENSP00000514626.1:p.Gly293Ala | |
| ENST00000699826.1:c.*838G>C | ENSP00000514627.1:n.*838G>C | |
| ENST00000699827.1:c.1271G>C | ENSP00000514628.1:p.Gly424Ala | |
| ENST00000699828.1:c.*529G>C | ENSP00000514629.1:n.*529G>C | |
| ENST00000699833.1:n.3211G>C | ||
| ENST00000699837.1:c.1034G>C | ENSP00000514635.1:p.Gly345Ala | |
| ENST00000699838.1:c.*1339G>C | ENSP00000514636.1:n.*1339G>C | |
| ENST00000699839.1:c.1625G>C | ENSP00000514637.1:p.Gly542Ala | |
| ENST00000699916.1:c.*696G>C | ENSP00000514684.1:n.*696G>C | |
| ENST00000699917.1:c.*888G>C | ENSP00000514685.1:n.*888G>C | |
| ENST00000699918.1:c.*940G>C | ENSP00000514686.1:n.*940G>C | |
| ENST00000699919.1:c.*1026G>C | ENSP00000514687.1:n.*1026G>C | |
| ENST00000699920.1:c.*1075G>C | ENSP00000514688.1:n.*1075G>C | |
| ENST00000699928.1:c.989-4335G>C | ENSP00000514693.1:n.989-4335G>C | |
| ENST00000699929.1:c.*740G>C | ENSP00000514694.1:n.*740G>C | |
| ENST00000699930.1:c.1331G>C | ENSP00000514695.1:p.Gly444Ala | |
| ENST00000699931.1:n.2867G>C | ||
| ENST00000699951.1:c.*535G>C | ENSP00000514706.1:n.*535G>C | |
| ENST00000699952.1:c.803+10000G>C | ENSP00000514707.1:n.803+10000G>C | |
| ENST00000699953.1:c.*546G>C | ENSP00000514708.1:n.*546G>C | |
| ENST00000699954.1:c.*740G>C | ENSP00000514709.1:n.*740G>C | |
| ENST00000265849.12:c.1439G>C MANE Select | ENSP00000265849.7:p.Gly480Ala | |
| ENST00000642292.1:c.1034G>C | ENSP00000495524.1:p.Gly345Ala | |
| ENST00000642456.1:c.1034G>C | ENSP00000493814.1:p.Gly345Ala | |
| ENST00000643595.1:c.*838G>C | ENSP00000494497.1:n.*838G>C | |
| ENST00000644110.1:c.1121G>C | ENSP00000496392.1:p.Gly374Ala | |
| ENST00000265849.11:c.1439G>C | ENSP00000265849.7:p.Gly480Ala | |
| ENST00000382321.5:c.804-4335G>C | ENSP00000371758.4:n.804-4335G>C | |
| ENST00000406569.7:n.1439G>C | ||
| ENST00000441476.6:c.1121G>C | ENSP00000392843.2:p.Gly374Ala | |
| ENST00000469652.1:n.63-4421G>C | ||
| NM_000535.5:c.1439G>C , LRG_161t1:c.1439G>C | NP_000526.1:p.Gly480Ala | |
| NR_003085.2:n.1521G>C | ||
| XM_006715742.2:c.1433G>C | XP_006715805.1:p.Gly478Ala | |
| XM_006715744.2:c.506G>C | XP_006715807.1:p.Gly169Ala | |
| XM_011515427.1:c.1484G>C | XP_011513729.1:p.Gly495Ala | |
| XM_011515428.1:c.1328G>C | XP_011513730.1:p.Gly443Ala | |
| XM_011515429.1:c.1121G>C | XP_011513731.1:p.Gly374Ala | |
| XM_011515430.1:c.1121G>C | XP_011513732.1:p.Gly374Ala | |
| NM_000535.6:c.1439G>C | NP_000526.2:p.Gly480Ala | |
| NM_001322003.1:c.1034G>C | NP_001308932.1:p.Gly345Ala | |
| NM_001322004.1:c.1034G>C | NP_001308933.1:p.Gly345Ala | |
| NM_001322005.1:c.1034G>C | NP_001308934.1:p.Gly345Ala | |
| NM_001322006.1:c.1283G>C | NP_001308935.1:p.Gly428Ala | |
| NM_001322007.1:c.1121G>C | NP_001308936.1:p.Gly374Ala | |
| NM_001322008.1:c.1121G>C | NP_001308937.1:p.Gly374Ala | |
| NM_001322009.1:c.1034G>C | NP_001308938.1:p.Gly345Ala | |
| NM_001322010.1:c.878G>C | NP_001308939.1:p.Gly293Ala | |
| NM_001322011.1:c.506G>C | NP_001308940.1:p.Gly169Ala | |
| NM_001322012.1:c.506G>C | NP_001308941.1:p.Gly169Ala | |
| NM_001322013.1:c.866G>C | NP_001308942.1:p.Gly289Ala | |
| NM_001322014.1:c.1439G>C | NP_001308943.1:p.Gly480Ala | |
| NM_001322015.1:c.1130G>C | NP_001308944.1:p.Gly377Ala | |
| NR_136154.1:n.1526G>C | ||
| XM_006715744.4:c.506G>C | XP_006715807.1:p.Gly169Ala | |
| XM_017012342.2:c.506G>C | XP_016867831.1:p.Gly169Ala | |
| XM_024446800.1:c.878G>C | XP_024302568.1:p.Gly293Ala | |
| NM_000535.7:c.1439G>C MANE Select | NP_000526.2:p.Gly480Ala | |
| NM_001322003.2:c.1034G>C | NP_001308932.1:p.Gly345Ala | |
| NM_001322004.2:c.1034G>C | NP_001308933.1:p.Gly345Ala | |
| NM_001322005.2:c.1034G>C | NP_001308934.1:p.Gly345Ala | |
| NM_001322006.2:c.1283G>C | NP_001308935.1:p.Gly428Ala | |
| NM_001322008.2:c.1121G>C | NP_001308937.1:p.Gly374Ala | |
| NM_001322009.2:c.1034G>C | NP_001308938.1:p.Gly345Ala | |
| NM_001322010.2:c.878G>C | NP_001308939.1:p.Gly293Ala | |
| NM_001322011.2:c.506G>C | NP_001308940.1:p.Gly169Ala | |
| NM_001322012.2:c.506G>C | NP_001308941.1:p.Gly169Ala | |
| NM_001322013.2:c.866G>C | NP_001308942.1:p.Gly289Ala | |
| NM_001322014.2:c.1439G>C | NP_001308943.1:p.Gly480Ala | |
| NM_001322015.2:c.1130G>C | NP_001308944.1:p.Gly377Ala | |
| NM_001322007.2:c.1121G>C | NP_001308936.1:p.Gly374Ala |