Linked Data
ClinVar Variation Id:
184092
ClinVar RCV Id:
RCV000163216
RCV000197131
RCV000412322
RCV000524485
RCV000679365
RCV000780629
RCV002492646
RCV003389705
RCV003492673
dbSNP Id:
rs116314131
ExAC:
7:6031648 C / T
gnomAD v2:
7-6031648-C-T
gnomAD v3:
7-5992017-C-T
gnomAD v4:
7-5992017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5992017C>T , CM000669.2:g.5992017C>T | GRCh38 |
| NC_000007.13:g.6031648C>T , CM000669.1:g.6031648C>T | GRCh37 |
| NC_000007.12:g.5998174C>T | NCBI36 |
| NG_008466.1:g.22090G>A , LRG_161:g.22090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*340G>A | ENSP00000514615.2:n.*340G>A | |
| ENST00000699840.2:c.941G>A | ENSP00000514638.2:p.Arg314Gln | |
| ENST00000699930.2:c.836G>A | ENSP00000514695.2:p.Arg279Gln | |
| ENST00000406569.8:c.944G>A | ENSP00000514464.1:p.Arg315Gln | |
| ENST00000644110.2:c.*538G>A | ENSP00000496392.2:n.*538G>A | |
| ENST00000699752.1:c.944G>A | ENSP00000514561.1:p.Arg315Gln | |
| ENST00000699753.1:c.*243G>A | ENSP00000514562.1:n.*243G>A | |
| ENST00000699754.1:c.746G>A | ENSP00000514563.1:p.Arg249Gln | |
| ENST00000699755.1:c.*343G>A | ENSP00000514564.1:n.*343G>A | |
| ENST00000699756.1:c.*531G>A | ENSP00000514565.1:n.*531G>A | |
| ENST00000699757.1:c.*201G>A | ENSP00000514566.1:n.*201G>A | |
| ENST00000699758.1:c.*201G>A | ENSP00000514567.1:n.*201G>A | |
| ENST00000699759.1:n.1798G>A | ||
| ENST00000699760.1:c.626G>A | ENSP00000514568.1:p.Arg209Gln | |
| ENST00000699761.1:c.539G>A | ENSP00000514569.1:p.Arg180Gln | |
| ENST00000699762.1:c.371G>A | ENSP00000514570.1:p.Arg124Gln | |
| ENST00000699763.1:c.539G>A | ENSP00000514571.1:p.Arg180Gln | |
| ENST00000699764.1:c.944G>A | ENSP00000514572.1:p.Arg315Gln | |
| ENST00000699765.1:c.*40G>A | ENSP00000514573.1:n.*40G>A | |
| ENST00000699766.1:c.944G>A | ENSP00000514574.1:p.Arg315Gln | |
| ENST00000699767.1:c.944G>A | ENSP00000514575.1:p.Arg315Gln | |
| ENST00000699768.1:c.944G>A | ENSP00000514576.1:p.Arg315Gln | |
| ENST00000699811.1:c.539G>A | ENSP00000514614.1:p.Arg180Gln | |
| ENST00000699813.1:n.1057G>A | ||
| ENST00000699814.1:c.567G>A | ||
| ENST00000699815.1:c.*436G>A | ENSP00000514616.1:n.*436G>A | |
| ENST00000699816.1:c.539G>A | ENSP00000514617.1:p.Arg180Gln | |
| ENST00000699817.1:c.*538G>A | ENSP00000514618.1:n.*538G>A | |
| ENST00000699818.1:c.539G>A | ENSP00000514619.1:p.Arg180Gln | |
| ENST00000699819.1:c.*101G>A | ENSP00000514620.1:n.*101G>A | |
| ENST00000699820.1:c.944G>A | ENSP00000514621.1:p.Arg315Gln | |
| ENST00000699821.1:c.539G>A | ENSP00000514622.1:p.Arg180Gln | |
| ENST00000699822.1:c.*396G>A | ENSP00000514623.1:n.*396G>A | |
| ENST00000699823.1:c.539G>A | ENSP00000514624.1:p.Arg180Gln | |
| ENST00000699824.1:c.*447G>A | ENSP00000514625.1:n.*447G>A | |
| ENST00000699825.1:c.539G>A | ENSP00000514626.1:p.Arg180Gln | |
| ENST00000699826.1:c.*343G>A | ENSP00000514627.1:n.*343G>A | |
| ENST00000699827.1:c.776G>A | ENSP00000514628.1:p.Arg259Gln | |
| ENST00000699828.1:c.944G>A | ENSP00000514629.1:p.Arg315Gln | |
| ENST00000699829.1:c.*445G>A | ENSP00000514630.1:n.*445G>A | |
| ENST00000699830.1:c.*343G>A | ENSP00000514631.1:n.*343G>A | |
| ENST00000699833.1:n.2716G>A | ||
| ENST00000699837.1:c.539G>A | ENSP00000514635.1:p.Arg180Gln | |
| ENST00000699838.1:c.*844G>A | ENSP00000514636.1:n.*844G>A | |
| ENST00000699839.1:c.1130G>A | ENSP00000514637.1:p.Arg377Gln | |
| ENST00000699840.1:c.941G>A | ENSP00000514638.1:p.Arg314Gln | |
| ENST00000699916.1:c.*201G>A | ENSP00000514684.1:n.*201G>A | |
| ENST00000699917.1:c.*393G>A | ENSP00000514685.1:n.*393G>A | |
| ENST00000699918.1:c.*445G>A | ENSP00000514686.1:n.*445G>A | |
| ENST00000699919.1:c.*531G>A | ENSP00000514687.1:n.*531G>A | |
| ENST00000699920.1:c.*580G>A | ENSP00000514688.1:n.*580G>A | |
| ENST00000699928.1:c.944G>A | ENSP00000514693.1:p.Arg315Gln | |
| ENST00000699929.1:c.*245G>A | ENSP00000514694.1:n.*245G>A | |
| ENST00000699930.1:c.836G>A | ENSP00000514695.1:p.Arg279Gln | |
| ENST00000699931.1:n.2372G>A | ||
| ENST00000699932.1:c.*40G>A | ENSP00000514696.1:n.*40G>A | |
| ENST00000699933.1:n.924G>A | ||
| ENST00000699951.1:c.*40G>A | ENSP00000514706.1:n.*40G>A | |
| ENST00000699952.1:c.803+5309G>A | ENSP00000514707.1:n.803+5309G>A | |
| ENST00000699953.1:c.*51G>A | ENSP00000514708.1:n.*51G>A | |
| ENST00000699954.1:c.*245G>A | ENSP00000514709.1:n.*245G>A | |
| ENST00000265849.12:c.944G>A MANE Select | ENSP00000265849.7:p.Arg315Gln | |
| ENST00000642292.1:c.539G>A | ENSP00000495524.1:p.Arg180Gln | |
| ENST00000642456.1:c.539G>A | ENSP00000493814.1:p.Arg180Gln | |
| ENST00000643595.1:c.*343G>A | ENSP00000494497.1:n.*343G>A | |
| ENST00000644110.1:c.626G>A | ENSP00000496392.1:p.Arg209Gln | |
| ENST00000265849.11:c.944G>A | ENSP00000265849.7:p.Arg315Gln | |
| ENST00000382321.5:c.803+5309G>A | ENSP00000371758.4:n.803+5309G>A | |
| ENST00000406569.7:n.944G>A | ||
| ENST00000441476.6:c.626G>A | ENSP00000392843.2:p.Arg209Gln | |
| ENST00000469652.1:n.63-9112G>A | ||
| NM_000535.5:c.944G>A , LRG_161t1:c.944G>A | NP_000526.1:p.Arg315Gln | |
| NR_003085.2:n.1026G>A | ||
| XM_006715742.2:c.938G>A | XP_006715805.1:p.Arg313Gln | |
| XM_006715744.2:c.11G>A | XP_006715807.1:p.Arg4Gln | |
| XM_011515427.1:c.989G>A | XP_011513729.1:p.Arg330Gln | |
| XM_011515428.1:c.989G>A | XP_011513730.1:p.Arg330Gln | |
| XM_011515429.1:c.626G>A | XP_011513731.1:p.Arg209Gln | |
| XM_011515430.1:c.626G>A | XP_011513732.1:p.Arg209Gln | |
| NM_000535.6:c.944G>A | NP_000526.2:p.Arg315Gln | |
| NM_001322003.1:c.539G>A | NP_001308932.1:p.Arg180Gln | |
| NM_001322004.1:c.539G>A | NP_001308933.1:p.Arg180Gln | |
| NM_001322005.1:c.539G>A | NP_001308934.1:p.Arg180Gln | |
| NM_001322006.1:c.944G>A | NP_001308935.1:p.Arg315Gln | |
| NM_001322007.1:c.626G>A | NP_001308936.1:p.Arg209Gln | |
| NM_001322008.1:c.626G>A | NP_001308937.1:p.Arg209Gln | |
| NM_001322009.1:c.539G>A | NP_001308938.1:p.Arg180Gln | |
| NM_001322010.1:c.539G>A | NP_001308939.1:p.Arg180Gln | |
| NM_001322011.1:c.11G>A | NP_001308940.1:p.Arg4Gln | |
| NM_001322012.1:c.11G>A | NP_001308941.1:p.Arg4Gln | |
| NM_001322013.1:c.371G>A | NP_001308942.1:p.Arg124Gln | |
| NM_001322014.1:c.944G>A | NP_001308943.1:p.Arg315Gln | |
| NM_001322015.1:c.635G>A | NP_001308944.1:p.Arg212Gln | |
| NR_136154.1:n.1031G>A | ||
| XM_006715744.4:c.11G>A | XP_006715807.1:p.Arg4Gln | |
| XM_017012342.2:c.11G>A | XP_016867831.1:p.Arg4Gln | |
| XM_024446800.1:c.539G>A | XP_024302568.1:p.Arg180Gln | |
| NM_000535.7:c.944G>A MANE Select | NP_000526.2:p.Arg315Gln | |
| NM_001322003.2:c.539G>A | NP_001308932.1:p.Arg180Gln | |
| NM_001322004.2:c.539G>A | NP_001308933.1:p.Arg180Gln | |
| NM_001322005.2:c.539G>A | NP_001308934.1:p.Arg180Gln | |
| NM_001322006.2:c.944G>A | NP_001308935.1:p.Arg315Gln | |
| NM_001322008.2:c.626G>A | NP_001308937.1:p.Arg209Gln | |
| NM_001322009.2:c.539G>A | NP_001308938.1:p.Arg180Gln | |
| NM_001322010.2:c.539G>A | NP_001308939.1:p.Arg180Gln | |
| NM_001322011.2:c.11G>A | NP_001308940.1:p.Arg4Gln | |
| NM_001322012.2:c.11G>A | NP_001308941.1:p.Arg4Gln | |
| NM_001322013.2:c.371G>A | NP_001308942.1:p.Arg124Gln | |
| NM_001322014.2:c.944G>A | NP_001308943.1:p.Arg315Gln | |
| NM_001322015.2:c.635G>A | NP_001308944.1:p.Arg212Gln | |
| NM_001322007.2:c.626G>A | NP_001308936.1:p.Arg209Gln |