Linked Data
ClinVar Variation Id:
41701
dbSNP Id:
rs63750685
ExAC:
7:6026959 G / C
gnomAD v2:
7-6026959-G-C
gnomAD v3:
7-5987328-G-C
gnomAD v4:
7-5987328-G-C
PubMed:
PMID:10479499
PMID:10480359
PMID:15077197
PMID:19526325
PMID:20186688
PMID:20186689
PMID:20205264
PMID:22086678
PMID:22290698
PMID:22703879
PMID:24027009
PMID:24689082
PMID:24728327
PMID:25142776
PMID:25479140
PMID:26845104
PMID:27028851
PMID:27435373
PMID:27601186
PMID:27930734
PMID:28874130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987328G>C , CM000669.2:g.5987328G>C | GRCh38 |
| NC_000007.13:g.6026959G>C , CM000669.1:g.6026959G>C | GRCh37 |
| NC_000007.12:g.5993485G>C | NCBI36 |
| NG_008466.1:g.26779C>G , LRG_161:g.26779C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*833C>G | ENSP00000514615.2:n.*833C>G | |
| ENST00000699840.2:c.1434C>G | ENSP00000514638.2:p.His478Gln | |
| ENST00000699930.2:c.1329C>G | ENSP00000514695.2:p.His443Gln | |
| ENST00000406569.8:c.1437C>G | ENSP00000514464.1:p.His479Gln | |
| ENST00000644110.2:c.*1031C>G | ENSP00000496392.2:n.*1031C>G | |
| ENST00000699752.1:c.1281C>G | ENSP00000514561.1:p.His427Gln | |
| ENST00000699753.1:c.*858C>G | ENSP00000514562.1:n.*858C>G | |
| ENST00000699754.1:c.1239C>G | ENSP00000514563.1:p.His413Gln | |
| ENST00000699755.1:c.*836C>G | ENSP00000514564.1:n.*836C>G | |
| ENST00000699756.1:c.*1024C>G | ENSP00000514565.1:n.*1024C>G | |
| ENST00000699757.1:c.*694C>G | ENSP00000514566.1:n.*694C>G | |
| ENST00000699758.1:c.*694C>G | ENSP00000514567.1:n.*694C>G | |
| ENST00000699759.1:n.2291C>G | ||
| ENST00000699760.1:c.1119C>G | ENSP00000514568.1:p.His373Gln | |
| ENST00000699761.1:c.1032C>G | ENSP00000514569.1:p.His344Gln | |
| ENST00000699762.1:c.864C>G | ENSP00000514570.1:p.His288Gln | |
| ENST00000699763.1:c.*527C>G | ENSP00000514571.1:n.*527C>G | |
| ENST00000699764.1:c.1437C>G | ENSP00000514572.1:p.His479Gln | |
| ENST00000699765.1:c.*533C>G | ENSP00000514573.1:n.*533C>G | |
| ENST00000699766.1:c.1437C>G | ENSP00000514574.1:p.His479Gln | |
| ENST00000699767.1:c.1437C>G | ENSP00000514575.1:p.His479Gln | |
| ENST00000699768.1:c.1437C>G | ENSP00000514576.1:p.His479Gln | |
| ENST00000699811.1:c.1032C>G | ENSP00000514614.1:p.His344Gln | |
| ENST00000699813.1:n.1550C>G | ||
| ENST00000699814.1:c.1060C>G | ||
| ENST00000699815.1:c.*968C>G | ENSP00000514616.1:n.*968C>G | |
| ENST00000699816.1:c.*327C>G | ENSP00000514617.1:n.*327C>G | |
| ENST00000699817.1:c.*1031C>G | ENSP00000514618.1:n.*1031C>G | |
| ENST00000699818.1:c.1032C>G | ENSP00000514619.1:p.His344Gln | |
| ENST00000699819.1:c.*594C>G | ENSP00000514620.1:n.*594C>G | |
| ENST00000699820.1:c.1144+2472C>G | ENSP00000514621.1:n.1144+2472C>G | |
| ENST00000699821.1:c.1032C>G | ENSP00000514622.1:p.His344Gln | |
| ENST00000699822.1:c.*889C>G | ENSP00000514623.1:n.*889C>G | |
| ENST00000699823.1:c.1032C>G | ENSP00000514624.1:p.His344Gln | |
| ENST00000699824.1:c.*940C>G | ENSP00000514625.1:n.*940C>G | |
| ENST00000699825.1:c.876C>G | ENSP00000514626.1:p.His292Gln | |
| ENST00000699826.1:c.*836C>G | ENSP00000514627.1:n.*836C>G | |
| ENST00000699827.1:c.1269C>G | ENSP00000514628.1:p.His423Gln | |
| ENST00000699828.1:c.*527C>G | ENSP00000514629.1:n.*527C>G | |
| ENST00000699833.1:n.3209C>G | ||
| ENST00000699837.1:c.1032C>G | ENSP00000514635.1:p.His344Gln | |
| ENST00000699838.1:c.*1337C>G | ENSP00000514636.1:n.*1337C>G | |
| ENST00000699839.1:c.1623C>G | ENSP00000514637.1:p.His541Gln | |
| ENST00000699916.1:c.*694C>G | ENSP00000514684.1:n.*694C>G | |
| ENST00000699917.1:c.*886C>G | ENSP00000514685.1:n.*886C>G | |
| ENST00000699918.1:c.*938C>G | ENSP00000514686.1:n.*938C>G | |
| ENST00000699919.1:c.*1024C>G | ENSP00000514687.1:n.*1024C>G | |
| ENST00000699920.1:c.*1073C>G | ENSP00000514688.1:n.*1073C>G | |
| ENST00000699928.1:c.989-4337C>G | ENSP00000514693.1:n.989-4337C>G | |
| ENST00000699929.1:c.*738C>G | ENSP00000514694.1:n.*738C>G | |
| ENST00000699930.1:c.1329C>G | ENSP00000514695.1:p.His443Gln | |
| ENST00000699931.1:n.2865C>G | ||
| ENST00000699951.1:c.*533C>G | ENSP00000514706.1:n.*533C>G | |
| ENST00000699952.1:c.803+9998C>G | ENSP00000514707.1:n.803+9998C>G | |
| ENST00000699953.1:c.*544C>G | ENSP00000514708.1:n.*544C>G | |
| ENST00000699954.1:c.*738C>G | ENSP00000514709.1:n.*738C>G | |
| ENST00000265849.12:c.1437C>G MANE Select | ENSP00000265849.7:p.His479Gln | |
| ENST00000642292.1:c.1032C>G | ENSP00000495524.1:p.His344Gln | |
| ENST00000642456.1:c.1032C>G | ENSP00000493814.1:p.His344Gln | |
| ENST00000643595.1:c.*836C>G | ENSP00000494497.1:n.*836C>G | |
| ENST00000644110.1:c.1119C>G | ENSP00000496392.1:p.His373Gln | |
| ENST00000265849.11:c.1437C>G | ENSP00000265849.7:p.His479Gln | |
| ENST00000382321.5:c.804-4337C>G | ENSP00000371758.4:n.804-4337C>G | |
| ENST00000406569.7:n.1437C>G | ||
| ENST00000441476.6:c.1119C>G | ENSP00000392843.2:p.His373Gln | |
| ENST00000469652.1:n.63-4423C>G | ||
| NM_000535.5:c.1437C>G , LRG_161t1:c.1437C>G | NP_000526.1:p.His479Gln | |
| NR_003085.2:n.1519C>G | ||
| XM_006715742.2:c.1431C>G | XP_006715805.1:p.His477Gln | |
| XM_006715744.2:c.504C>G | XP_006715807.1:p.His168Gln | |
| XM_011515427.1:c.1482C>G | XP_011513729.1:p.His494Gln | |
| XM_011515428.1:c.1326C>G | XP_011513730.1:p.His442Gln | |
| XM_011515429.1:c.1119C>G | XP_011513731.1:p.His373Gln | |
| XM_011515430.1:c.1119C>G | XP_011513732.1:p.His373Gln | |
| NM_000535.6:c.1437C>G | NP_000526.2:p.His479Gln | |
| NM_001322003.1:c.1032C>G | NP_001308932.1:p.His344Gln | |
| NM_001322004.1:c.1032C>G | NP_001308933.1:p.His344Gln | |
| NM_001322005.1:c.1032C>G | NP_001308934.1:p.His344Gln | |
| NM_001322006.1:c.1281C>G | NP_001308935.1:p.His427Gln | |
| NM_001322007.1:c.1119C>G | NP_001308936.1:p.His373Gln | |
| NM_001322008.1:c.1119C>G | NP_001308937.1:p.His373Gln | |
| NM_001322009.1:c.1032C>G | NP_001308938.1:p.His344Gln | |
| NM_001322010.1:c.876C>G | NP_001308939.1:p.His292Gln | |
| NM_001322011.1:c.504C>G | NP_001308940.1:p.His168Gln | |
| NM_001322012.1:c.504C>G | NP_001308941.1:p.His168Gln | |
| NM_001322013.1:c.864C>G | NP_001308942.1:p.His288Gln | |
| NM_001322014.1:c.1437C>G | NP_001308943.1:p.His479Gln | |
| NM_001322015.1:c.1128C>G | NP_001308944.1:p.His376Gln | |
| NR_136154.1:n.1524C>G | ||
| XM_006715744.4:c.504C>G | XP_006715807.1:p.His168Gln | |
| XM_017012342.2:c.504C>G | XP_016867831.1:p.His168Gln | |
| XM_024446800.1:c.876C>G | XP_024302568.1:p.His292Gln | |
| NM_000535.7:c.1437C>G MANE Select | NP_000526.2:p.His479Gln | |
| NM_001322003.2:c.1032C>G | NP_001308932.1:p.His344Gln | |
| NM_001322004.2:c.1032C>G | NP_001308933.1:p.His344Gln | |
| NM_001322005.2:c.1032C>G | NP_001308934.1:p.His344Gln | |
| NM_001322006.2:c.1281C>G | NP_001308935.1:p.His427Gln | |
| NM_001322008.2:c.1119C>G | NP_001308937.1:p.His373Gln | |
| NM_001322009.2:c.1032C>G | NP_001308938.1:p.His344Gln | |
| NM_001322010.2:c.876C>G | NP_001308939.1:p.His292Gln | |
| NM_001322011.2:c.504C>G | NP_001308940.1:p.His168Gln | |
| NM_001322012.2:c.504C>G | NP_001308941.1:p.His168Gln | |
| NM_001322013.2:c.864C>G | NP_001308942.1:p.His288Gln | |
| NM_001322014.2:c.1437C>G | NP_001308943.1:p.His479Gln | |
| NM_001322015.2:c.1128C>G | NP_001308944.1:p.His376Gln | |
| NM_001322007.2:c.1119C>G | NP_001308936.1:p.His373Gln |