Linked Data
ClinVar Variation Id:
127796
ClinVar RCV Id:
RCV000115704
RCV000216292
RCV000552808
RCV000709755
RCV000763589
RCV001264438
RCV003997292
dbSNP Id:
rs587780062
ExAC:
7:6035245 G / A
gnomAD v2:
7-6035245-G-A
gnomAD v3:
7-5995614-G-A
gnomAD v4:
7-5995614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5995614G>A , CM000669.2:g.5995614G>A | GRCh38 |
| NC_000007.13:g.6035245G>A , CM000669.1:g.6035245G>A | GRCh37 |
| NC_000007.12:g.6001771G>A | NCBI36 |
| NG_008466.1:g.18493C>T , LRG_161:g.18493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*299+3494C>T | ENSP00000514615.2:n.*299+3494C>T | |
| ENST00000699840.2:c.820C>T | ENSP00000514638.2:p.Gln274Ter | |
| ENST00000699930.2:c.715C>T | ENSP00000514695.2:p.Gln239Ter | |
| ENST00000406569.8:c.823C>T | ENSP00000514464.1:p.Gln275Ter | |
| ENST00000644110.2:c.*417C>T | ENSP00000496392.2:n.*417C>T | |
| ENST00000699752.1:c.823C>T | ENSP00000514561.1:p.Gln275Ter | |
| ENST00000699753.1:c.*202+1712C>T | ENSP00000514562.1:n.*202+1712C>T | |
| ENST00000699754.1:c.705+3494C>T | ENSP00000514563.1:n.705+3494C>T | |
| ENST00000699755.1:c.*222C>T | ENSP00000514564.1:n.*222C>T | |
| ENST00000699756.1:c.*410C>T | ENSP00000514565.1:n.*410C>T | |
| ENST00000699757.1:c.*80C>T | ENSP00000514566.1:n.*80C>T | |
| ENST00000699758.1:c.*80C>T | ENSP00000514567.1:n.*80C>T | |
| ENST00000699759.1:n.895C>T | ||
| ENST00000699760.1:c.505C>T | ENSP00000514568.1:p.Gln169Ter | |
| ENST00000699761.1:c.418C>T | ENSP00000514569.1:p.Gln140Ter | |
| ENST00000699762.1:c.250C>T | ENSP00000514570.1:p.Gln84Ter | |
| ENST00000699763.1:c.418C>T | ENSP00000514571.1:p.Gln140Ter | |
| ENST00000699764.1:c.823C>T | ENSP00000514572.1:p.Gln275Ter | |
| ENST00000699765.1:c.485+1712C>T | ENSP00000514573.1:n.485+1712C>T | |
| ENST00000699766.1:c.823C>T | ENSP00000514574.1:p.Gln275Ter | |
| ENST00000699767.1:c.823C>T | ENSP00000514575.1:p.Gln275Ter | |
| ENST00000699768.1:c.823C>T | ENSP00000514576.1:p.Gln275Ter | |
| ENST00000699811.1:c.418C>T | ENSP00000514614.1:p.Gln140Ter | |
| ENST00000699813.1:n.936C>T | ||
| ENST00000699814.1:c.526+3494C>T | ||
| ENST00000699815.1:c.*305-1010C>T | ENSP00000514616.1:n.*305-1010C>T | |
| ENST00000699816.1:c.418C>T | ENSP00000514617.1:p.Gln140Ter | |
| ENST00000699817.1:c.*417C>T | ENSP00000514618.1:n.*417C>T | |
| ENST00000699818.1:c.418C>T | ENSP00000514619.1:p.Gln140Ter | |
| ENST00000699819.1:c.*60+1712C>T | ENSP00000514620.1:n.*60+1712C>T | |
| ENST00000699820.1:c.823C>T | ENSP00000514621.1:p.Gln275Ter | |
| ENST00000699821.1:c.418C>T | ENSP00000514622.1:p.Gln140Ter | |
| ENST00000699822.1:c.*275C>T | ENSP00000514623.1:n.*275C>T | |
| ENST00000699823.1:c.418C>T | ENSP00000514624.1:p.Gln140Ter | |
| ENST00000699824.1:c.*326C>T | ENSP00000514625.1:n.*326C>T | |
| ENST00000699825.1:c.418C>T | ENSP00000514626.1:p.Gln140Ter | |
| ENST00000699826.1:c.*222C>T | ENSP00000514627.1:n.*222C>T | |
| ENST00000699827.1:c.655C>T | ENSP00000514628.1:p.Gln219Ter | |
| ENST00000699828.1:c.823C>T | ENSP00000514629.1:p.Gln275Ter | |
| ENST00000699829.1:c.*324C>T | ENSP00000514630.1:n.*324C>T | |
| ENST00000699830.1:c.*222C>T | ENSP00000514631.1:n.*222C>T | |
| ENST00000699833.1:n.2595C>T | ||
| ENST00000699837.1:c.418C>T | ENSP00000514635.1:p.Gln140Ter | |
| ENST00000699838.1:c.*723C>T | ENSP00000514636.1:n.*723C>T | |
| ENST00000699839.1:c.1009C>T | ENSP00000514637.1:p.Gln337Ter | |
| ENST00000699840.1:c.820C>T | ENSP00000514638.1:p.Gln274Ter | |
| ENST00000699916.1:c.*80C>T | ENSP00000514684.1:n.*80C>T | |
| ENST00000699917.1:c.*272C>T | ENSP00000514685.1:n.*272C>T | |
| ENST00000699918.1:c.*324C>T | ENSP00000514686.1:n.*324C>T | |
| ENST00000699919.1:c.*410C>T | ENSP00000514687.1:n.*410C>T | |
| ENST00000699920.1:c.*459C>T | ENSP00000514688.1:n.*459C>T | |
| ENST00000699928.1:c.823C>T | ENSP00000514693.1:p.Gln275Ter | |
| ENST00000699929.1:c.*124C>T | ENSP00000514694.1:n.*124C>T | |
| ENST00000699930.1:c.715C>T | ENSP00000514695.1:p.Gln239Ter | |
| ENST00000699931.1:n.934C>T | ||
| ENST00000699932.1:c.803+1712C>T | ENSP00000514696.1:n.803+1712C>T | |
| ENST00000699933.1:n.883+1712C>T | ||
| ENST00000699951.1:c.803+1712C>T | ENSP00000514706.1:n.803+1712C>T | |
| ENST00000699952.1:c.803+1712C>T | ENSP00000514707.1:n.803+1712C>T | |
| ENST00000699953.1:c.725C>T | ENSP00000514708.1:p.Thr242Ile | |
| ENST00000699954.1:c.*124C>T | ENSP00000514709.1:n.*124C>T | |
| ENST00000265849.12:c.823C>T MANE Select | ENSP00000265849.7:p.Gln275Ter | |
| ENST00000642292.1:c.418C>T | ENSP00000495524.1:p.Gln140Ter | |
| ENST00000642456.1:c.418C>T | ENSP00000493814.1:p.Gln140Ter | |
| ENST00000643595.1:c.*222C>T | ENSP00000494497.1:n.*222C>T | |
| ENST00000644110.1:c.505C>T | ENSP00000496392.1:p.Gln169Ter | |
| ENST00000265849.11:c.823C>T | ENSP00000265849.7:p.Gln275Ter | |
| ENST00000382321.5:c.803+1712C>T | ENSP00000371758.4:n.803+1712C>T | |
| ENST00000406569.7:n.823C>T | ||
| ENST00000441476.6:c.505C>T | ENSP00000392843.2:p.Gln169Ter | |
| ENST00000469652.1:n.62+10379C>T | ||
| NM_000535.5:c.823C>T , LRG_161t1:c.823C>T | NP_000526.1:p.Gln275Ter | |
| NR_003085.2:n.905C>T | ||
| XM_006715742.2:c.817C>T | XP_006715805.1:p.Gln273Ter | |
| XM_011515427.1:c.868C>T | XP_011513729.1:p.Gln290Ter | |
| XM_011515428.1:c.868C>T | XP_011513730.1:p.Gln290Ter | |
| XM_011515429.1:c.505C>T | XP_011513731.1:p.Gln169Ter | |
| XM_011515430.1:c.505C>T | XP_011513732.1:p.Gln169Ter | |
| NM_000535.6:c.823C>T | NP_000526.2:p.Gln275Ter | |
| NM_001322003.1:c.418C>T | NP_001308932.1:p.Gln140Ter | |
| NM_001322004.1:c.418C>T | NP_001308933.1:p.Gln140Ter | |
| NM_001322005.1:c.418C>T | NP_001308934.1:p.Gln140Ter | |
| NM_001322006.1:c.823C>T | NP_001308935.1:p.Gln275Ter | |
| NM_001322007.1:c.505C>T | NP_001308936.1:p.Gln169Ter | |
| NM_001322008.1:c.505C>T | NP_001308937.1:p.Gln169Ter | |
| NM_001322009.1:c.418C>T | NP_001308938.1:p.Gln140Ter | |
| NM_001322010.1:c.418C>T | NP_001308939.1:p.Gln140Ter | |
| NM_001322011.1:c.-111C>T | NP_001308940.1:n.-111C>T | |
| NM_001322012.1:c.-111C>T | NP_001308941.1:n.-111C>T | |
| NM_001322013.1:c.250C>T | NP_001308942.1:p.Gln84Ter | |
| NM_001322014.1:c.823C>T | NP_001308943.1:p.Gln275Ter | |
| NM_001322015.1:c.514C>T | NP_001308944.1:p.Gln172Ter | |
| NR_136154.1:n.910C>T | ||
| XM_017012342.2:c.-31+1712C>T | XP_016867831.1:n.-31+1712C>T | |
| XM_024446800.1:c.418C>T | XP_024302568.1:p.Gln140Ter | |
| NM_000535.7:c.823C>T MANE Select | NP_000526.2:p.Gln275Ter | |
| NM_001322003.2:c.418C>T | NP_001308932.1:p.Gln140Ter | |
| NM_001322004.2:c.418C>T | NP_001308933.1:p.Gln140Ter | |
| NM_001322005.2:c.418C>T | NP_001308934.1:p.Gln140Ter | |
| NM_001322006.2:c.823C>T | NP_001308935.1:p.Gln275Ter | |
| NM_001322008.2:c.505C>T | NP_001308937.1:p.Gln169Ter | |
| NM_001322009.2:c.418C>T | NP_001308938.1:p.Gln140Ter | |
| NM_001322010.2:c.418C>T | NP_001308939.1:p.Gln140Ter | |
| NM_001322011.2:c.-111C>T | NP_001308940.1:n.-111C>T | |
| NM_001322012.2:c.-111C>T | NP_001308941.1:n.-111C>T | |
| NM_001322013.2:c.250C>T | NP_001308942.1:p.Gln84Ter | |
| NM_001322014.2:c.823C>T | NP_001308943.1:p.Gln275Ter | |
| NM_001322015.2:c.514C>T | NP_001308944.1:p.Gln172Ter | |
| NM_001322007.2:c.505C>T | NP_001308936.1:p.Gln169Ter |