Linked Data
ClinVar Variation Id:
91383
dbSNP Id:
rs143277125
gnomAD v3:
7-5992012-G-A
gnomAD v4:
7-5992012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5992012G>A , CM000669.2:g.5992012G>A | GRCh38 |
| NC_000007.13:g.6031643G>A , CM000669.1:g.6031643G>A | GRCh37 |
| NC_000007.12:g.5998169G>A | NCBI36 |
| NG_008466.1:g.22095C>T , LRG_161:g.22095C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*345C>T | ENSP00000514615.2:n.*345C>T | |
| ENST00000699840.2:c.946C>T | ENSP00000514638.2:p.Gln316Ter | |
| ENST00000699930.2:c.841C>T | ENSP00000514695.2:p.Gln281Ter | |
| ENST00000406569.8:c.949C>T | ENSP00000514464.1:p.Gln317Ter | |
| ENST00000644110.2:c.*543C>T | ENSP00000496392.2:n.*543C>T | |
| ENST00000699752.1:c.949C>T | ENSP00000514561.1:p.Gln317Ter | |
| ENST00000699753.1:c.*248C>T | ENSP00000514562.1:n.*248C>T | |
| ENST00000699754.1:c.751C>T | ENSP00000514563.1:p.Gln251Ter | |
| ENST00000699755.1:c.*348C>T | ENSP00000514564.1:n.*348C>T | |
| ENST00000699756.1:c.*536C>T | ENSP00000514565.1:n.*536C>T | |
| ENST00000699757.1:c.*206C>T | ENSP00000514566.1:n.*206C>T | |
| ENST00000699758.1:c.*206C>T | ENSP00000514567.1:n.*206C>T | |
| ENST00000699759.1:n.1803C>T | ||
| ENST00000699760.1:c.631C>T | ENSP00000514568.1:p.Gln211Ter | |
| ENST00000699761.1:c.544C>T | ENSP00000514569.1:p.Gln182Ter | |
| ENST00000699762.1:c.376C>T | ENSP00000514570.1:p.Gln126Ter | |
| ENST00000699763.1:c.544C>T | ENSP00000514571.1:p.Gln182Ter | |
| ENST00000699764.1:c.949C>T | ENSP00000514572.1:p.Gln317Ter | |
| ENST00000699765.1:c.*45C>T | ENSP00000514573.1:n.*45C>T | |
| ENST00000699766.1:c.949C>T | ENSP00000514574.1:p.Gln317Ter | |
| ENST00000699767.1:c.949C>T | ENSP00000514575.1:p.Gln317Ter | |
| ENST00000699768.1:c.949C>T | ENSP00000514576.1:p.Gln317Ter | |
| ENST00000699811.1:c.544C>T | ENSP00000514614.1:p.Gln182Ter | |
| ENST00000699813.1:n.1062C>T | ||
| ENST00000699814.1:c.572C>T | ||
| ENST00000699815.1:c.*441C>T | ENSP00000514616.1:n.*441C>T | |
| ENST00000699816.1:c.544C>T | ENSP00000514617.1:p.Gln182Ter | |
| ENST00000699817.1:c.*543C>T | ENSP00000514618.1:n.*543C>T | |
| ENST00000699818.1:c.544C>T | ENSP00000514619.1:p.Gln182Ter | |
| ENST00000699819.1:c.*106C>T | ENSP00000514620.1:n.*106C>T | |
| ENST00000699820.1:c.949C>T | ENSP00000514621.1:p.Gln317Ter | |
| ENST00000699821.1:c.544C>T | ENSP00000514622.1:p.Gln182Ter | |
| ENST00000699822.1:c.*401C>T | ENSP00000514623.1:n.*401C>T | |
| ENST00000699823.1:c.544C>T | ENSP00000514624.1:p.Gln182Ter | |
| ENST00000699824.1:c.*452C>T | ENSP00000514625.1:n.*452C>T | |
| ENST00000699825.1:c.544C>T | ENSP00000514626.1:p.Gln182Ter | |
| ENST00000699826.1:c.*348C>T | ENSP00000514627.1:n.*348C>T | |
| ENST00000699827.1:c.781C>T | ENSP00000514628.1:p.Gln261Ter | |
| ENST00000699828.1:c.949C>T | ENSP00000514629.1:p.Gln317Ter | |
| ENST00000699829.1:c.*450C>T | ENSP00000514630.1:n.*450C>T | |
| ENST00000699830.1:c.*348C>T | ENSP00000514631.1:n.*348C>T | |
| ENST00000699833.1:n.2721C>T | ||
| ENST00000699837.1:c.544C>T | ENSP00000514635.1:p.Gln182Ter | |
| ENST00000699838.1:c.*849C>T | ENSP00000514636.1:n.*849C>T | |
| ENST00000699839.1:c.1135C>T | ENSP00000514637.1:p.Gln379Ter | |
| ENST00000699840.1:c.946C>T | ENSP00000514638.1:p.Gln316Ter | |
| ENST00000699916.1:c.*206C>T | ENSP00000514684.1:n.*206C>T | |
| ENST00000699917.1:c.*398C>T | ENSP00000514685.1:n.*398C>T | |
| ENST00000699918.1:c.*450C>T | ENSP00000514686.1:n.*450C>T | |
| ENST00000699919.1:c.*536C>T | ENSP00000514687.1:n.*536C>T | |
| ENST00000699920.1:c.*585C>T | ENSP00000514688.1:n.*585C>T | |
| ENST00000699928.1:c.949C>T | ENSP00000514693.1:p.Gln317Ter | |
| ENST00000699929.1:c.*250C>T | ENSP00000514694.1:n.*250C>T | |
| ENST00000699930.1:c.841C>T | ENSP00000514695.1:p.Gln281Ter | |
| ENST00000699931.1:n.2377C>T | ||
| ENST00000699932.1:c.*45C>T | ENSP00000514696.1:n.*45C>T | |
| ENST00000699933.1:n.929C>T | ||
| ENST00000699951.1:c.*45C>T | ENSP00000514706.1:n.*45C>T | |
| ENST00000699952.1:c.803+5314C>T | ENSP00000514707.1:n.803+5314C>T | |
| ENST00000699953.1:c.*56C>T | ENSP00000514708.1:n.*56C>T | |
| ENST00000699954.1:c.*250C>T | ENSP00000514709.1:n.*250C>T | |
| ENST00000265849.12:c.949C>T MANE Select | ENSP00000265849.7:p.Gln317Ter | |
| ENST00000642292.1:c.544C>T | ENSP00000495524.1:p.Gln182Ter | |
| ENST00000642456.1:c.544C>T | ENSP00000493814.1:p.Gln182Ter | |
| ENST00000643595.1:c.*348C>T | ENSP00000494497.1:n.*348C>T | |
| ENST00000644110.1:c.631C>T | ENSP00000496392.1:p.Gln211Ter | |
| ENST00000265849.11:c.949C>T | ENSP00000265849.7:p.Gln317Ter | |
| ENST00000382321.5:c.803+5314C>T | ENSP00000371758.4:n.803+5314C>T | |
| ENST00000406569.7:n.949C>T | ||
| ENST00000441476.6:c.631C>T | ENSP00000392843.2:p.Gln211Ter | |
| ENST00000469652.1:n.63-9107C>T | ||
| NM_000535.5:c.949C>T , LRG_161t1:c.949C>T | NP_000526.1:p.Gln317Ter | |
| NR_003085.2:n.1031C>T | ||
| XM_006715742.2:c.943C>T | XP_006715805.1:p.Gln315Ter | |
| XM_006715744.2:c.16C>T | XP_006715807.1:p.Gln6Ter | |
| XM_011515427.1:c.994C>T | XP_011513729.1:p.Gln332Ter | |
| XM_011515428.1:c.994C>T | XP_011513730.1:p.Gln332Ter | |
| XM_011515429.1:c.631C>T | XP_011513731.1:p.Gln211Ter | |
| XM_011515430.1:c.631C>T | XP_011513732.1:p.Gln211Ter | |
| NM_000535.6:c.949C>T | NP_000526.2:p.Gln317Ter | |
| NM_001322003.1:c.544C>T | NP_001308932.1:p.Gln182Ter | |
| NM_001322004.1:c.544C>T | NP_001308933.1:p.Gln182Ter | |
| NM_001322005.1:c.544C>T | NP_001308934.1:p.Gln182Ter | |
| NM_001322006.1:c.949C>T | NP_001308935.1:p.Gln317Ter | |
| NM_001322007.1:c.631C>T | NP_001308936.1:p.Gln211Ter | |
| NM_001322008.1:c.631C>T | NP_001308937.1:p.Gln211Ter | |
| NM_001322009.1:c.544C>T | NP_001308938.1:p.Gln182Ter | |
| NM_001322010.1:c.544C>T | NP_001308939.1:p.Gln182Ter | |
| NM_001322011.1:c.16C>T | NP_001308940.1:p.Gln6Ter | |
| NM_001322012.1:c.16C>T | NP_001308941.1:p.Gln6Ter | |
| NM_001322013.1:c.376C>T | NP_001308942.1:p.Gln126Ter | |
| NM_001322014.1:c.949C>T | NP_001308943.1:p.Gln317Ter | |
| NM_001322015.1:c.640C>T | NP_001308944.1:p.Gln214Ter | |
| NR_136154.1:n.1036C>T | ||
| XM_006715744.4:c.16C>T | XP_006715807.1:p.Gln6Ter | |
| XM_017012342.2:c.16C>T | XP_016867831.1:p.Gln6Ter | |
| XM_024446800.1:c.544C>T | XP_024302568.1:p.Gln182Ter | |
| NM_000535.7:c.949C>T MANE Select | NP_000526.2:p.Gln317Ter | |
| NM_001322003.2:c.544C>T | NP_001308932.1:p.Gln182Ter | |
| NM_001322004.2:c.544C>T | NP_001308933.1:p.Gln182Ter | |
| NM_001322005.2:c.544C>T | NP_001308934.1:p.Gln182Ter | |
| NM_001322006.2:c.949C>T | NP_001308935.1:p.Gln317Ter | |
| NM_001322008.2:c.631C>T | NP_001308937.1:p.Gln211Ter | |
| NM_001322009.2:c.544C>T | NP_001308938.1:p.Gln182Ter | |
| NM_001322010.2:c.544C>T | NP_001308939.1:p.Gln182Ter | |
| NM_001322011.2:c.16C>T | NP_001308940.1:p.Gln6Ter | |
| NM_001322012.2:c.16C>T | NP_001308941.1:p.Gln6Ter | |
| NM_001322013.2:c.376C>T | NP_001308942.1:p.Gln126Ter | |
| NM_001322014.2:c.949C>T | NP_001308943.1:p.Gln317Ter | |
| NM_001322015.2:c.640C>T | NP_001308944.1:p.Gln214Ter | |
| NM_001322007.2:c.631C>T | NP_001308936.1:p.Gln211Ter |