Linked Data
ClinVar Variation Id:
142447
ClinVar RCV Id:
RCV000131574
RCV000457616
RCV000656947
RCV001249988
RCV003149908
RCV003998108
RCV003894996
dbSNP Id:
rs373611083
ExAC:
7:6026997 C / T
gnomAD v2:
7-6026997-C-T
gnomAD v3:
7-5987366-C-T
gnomAD v4:
7-5987366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987366C>T , CM000669.2:g.5987366C>T | GRCh38 |
| NC_000007.13:g.6026997C>T , CM000669.1:g.6026997C>T | GRCh37 |
| NC_000007.12:g.5993523C>T | NCBI36 |
| NG_008466.1:g.26741G>A , LRG_161:g.26741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*795G>A | ENSP00000514615.2:n.*795G>A | |
| ENST00000699840.2:c.1396G>A | ENSP00000514638.2:p.Val466Ile | |
| ENST00000699930.2:c.1291G>A | ENSP00000514695.2:p.Val431Ile | |
| ENST00000406569.8:c.1399G>A | ENSP00000514464.1:p.Val467Ile | |
| ENST00000644110.2:c.*993G>A | ENSP00000496392.2:n.*993G>A | |
| ENST00000699752.1:c.1243G>A | ENSP00000514561.1:p.Val415Ile | |
| ENST00000699753.1:c.*820G>A | ENSP00000514562.1:n.*820G>A | |
| ENST00000699754.1:c.1201G>A | ENSP00000514563.1:p.Val401Ile | |
| ENST00000699755.1:c.*798G>A | ENSP00000514564.1:n.*798G>A | |
| ENST00000699756.1:c.*986G>A | ENSP00000514565.1:n.*986G>A | |
| ENST00000699757.1:c.*656G>A | ENSP00000514566.1:n.*656G>A | |
| ENST00000699758.1:c.*656G>A | ENSP00000514567.1:n.*656G>A | |
| ENST00000699759.1:n.2253G>A | ||
| ENST00000699760.1:c.1081G>A | ENSP00000514568.1:p.Val361Ile | |
| ENST00000699761.1:c.994G>A | ENSP00000514569.1:p.Val332Ile | |
| ENST00000699762.1:c.826G>A | ENSP00000514570.1:p.Val276Ile | |
| ENST00000699763.1:c.*489G>A | ENSP00000514571.1:n.*489G>A | |
| ENST00000699764.1:c.1399G>A | ENSP00000514572.1:p.Val467Ile | |
| ENST00000699765.1:c.*495G>A | ENSP00000514573.1:n.*495G>A | |
| ENST00000699766.1:c.1399G>A | ENSP00000514574.1:p.Val467Ile | |
| ENST00000699767.1:c.1399G>A | ENSP00000514575.1:p.Val467Ile | |
| ENST00000699768.1:c.1399G>A | ENSP00000514576.1:p.Val467Ile | |
| ENST00000699811.1:c.994G>A | ENSP00000514614.1:p.Val332Ile | |
| ENST00000699813.1:n.1512G>A | ||
| ENST00000699814.1:c.1022G>A | ||
| ENST00000699815.1:c.*930G>A | ENSP00000514616.1:n.*930G>A | |
| ENST00000699816.1:c.*289G>A | ENSP00000514617.1:n.*289G>A | |
| ENST00000699817.1:c.*993G>A | ENSP00000514618.1:n.*993G>A | |
| ENST00000699818.1:c.994G>A | ENSP00000514619.1:p.Val332Ile | |
| ENST00000699819.1:c.*556G>A | ENSP00000514620.1:n.*556G>A | |
| ENST00000699820.1:c.1144+2434G>A | ENSP00000514621.1:n.1144+2434G>A | |
| ENST00000699821.1:c.994G>A | ENSP00000514622.1:p.Val332Ile | |
| ENST00000699822.1:c.*851G>A | ENSP00000514623.1:n.*851G>A | |
| ENST00000699823.1:c.994G>A | ENSP00000514624.1:p.Val332Ile | |
| ENST00000699824.1:c.*902G>A | ENSP00000514625.1:n.*902G>A | |
| ENST00000699825.1:c.838G>A | ENSP00000514626.1:p.Val280Ile | |
| ENST00000699826.1:c.*798G>A | ENSP00000514627.1:n.*798G>A | |
| ENST00000699827.1:c.1231G>A | ENSP00000514628.1:p.Val411Ile | |
| ENST00000699828.1:c.*489G>A | ENSP00000514629.1:n.*489G>A | |
| ENST00000699833.1:n.3171G>A | ||
| ENST00000699837.1:c.994G>A | ENSP00000514635.1:p.Val332Ile | |
| ENST00000699838.1:c.*1299G>A | ENSP00000514636.1:n.*1299G>A | |
| ENST00000699839.1:c.1585G>A | ENSP00000514637.1:p.Val529Ile | |
| ENST00000699916.1:c.*656G>A | ENSP00000514684.1:n.*656G>A | |
| ENST00000699917.1:c.*848G>A | ENSP00000514685.1:n.*848G>A | |
| ENST00000699918.1:c.*900G>A | ENSP00000514686.1:n.*900G>A | |
| ENST00000699919.1:c.*986G>A | ENSP00000514687.1:n.*986G>A | |
| ENST00000699920.1:c.*1035G>A | ENSP00000514688.1:n.*1035G>A | |
| ENST00000699928.1:c.989-4375G>A | ENSP00000514693.1:n.989-4375G>A | |
| ENST00000699929.1:c.*700G>A | ENSP00000514694.1:n.*700G>A | |
| ENST00000699930.1:c.1291G>A | ENSP00000514695.1:p.Val431Ile | |
| ENST00000699931.1:n.2827G>A | ||
| ENST00000699951.1:c.*495G>A | ENSP00000514706.1:n.*495G>A | |
| ENST00000699952.1:c.803+9960G>A | ENSP00000514707.1:n.803+9960G>A | |
| ENST00000699953.1:c.*506G>A | ENSP00000514708.1:n.*506G>A | |
| ENST00000699954.1:c.*700G>A | ENSP00000514709.1:n.*700G>A | |
| ENST00000265849.12:c.1399G>A MANE Select | ENSP00000265849.7:p.Val467Ile | |
| ENST00000642292.1:c.994G>A | ENSP00000495524.1:p.Val332Ile | |
| ENST00000642456.1:c.994G>A | ENSP00000493814.1:p.Val332Ile | |
| ENST00000643595.1:c.*798G>A | ENSP00000494497.1:n.*798G>A | |
| ENST00000644110.1:c.1081G>A | ENSP00000496392.1:p.Val361Ile | |
| ENST00000265849.11:c.1399G>A | ENSP00000265849.7:p.Val467Ile | |
| ENST00000382321.5:c.804-4375G>A | ENSP00000371758.4:n.804-4375G>A | |
| ENST00000406569.7:n.1399G>A | ||
| ENST00000441476.6:c.1081G>A | ENSP00000392843.2:p.Val361Ile | |
| ENST00000469652.1:n.63-4461G>A | ||
| NM_000535.5:c.1399G>A , LRG_161t1:c.1399G>A | NP_000526.1:p.Val467Ile | |
| NR_003085.2:n.1481G>A | ||
| XM_006715742.2:c.1393G>A | XP_006715805.1:p.Val465Ile | |
| XM_006715744.2:c.466G>A | XP_006715807.1:p.Val156Ile | |
| XM_011515427.1:c.1444G>A | XP_011513729.1:p.Val482Ile | |
| XM_011515428.1:c.1288G>A | XP_011513730.1:p.Val430Ile | |
| XM_011515429.1:c.1081G>A | XP_011513731.1:p.Val361Ile | |
| XM_011515430.1:c.1081G>A | XP_011513732.1:p.Val361Ile | |
| NM_000535.6:c.1399G>A | NP_000526.2:p.Val467Ile | |
| NM_001322003.1:c.994G>A | NP_001308932.1:p.Val332Ile | |
| NM_001322004.1:c.994G>A | NP_001308933.1:p.Val332Ile | |
| NM_001322005.1:c.994G>A | NP_001308934.1:p.Val332Ile | |
| NM_001322006.1:c.1243G>A | NP_001308935.1:p.Val415Ile | |
| NM_001322007.1:c.1081G>A | NP_001308936.1:p.Val361Ile | |
| NM_001322008.1:c.1081G>A | NP_001308937.1:p.Val361Ile | |
| NM_001322009.1:c.994G>A | NP_001308938.1:p.Val332Ile | |
| NM_001322010.1:c.838G>A | NP_001308939.1:p.Val280Ile | |
| NM_001322011.1:c.466G>A | NP_001308940.1:p.Val156Ile | |
| NM_001322012.1:c.466G>A | NP_001308941.1:p.Val156Ile | |
| NM_001322013.1:c.826G>A | NP_001308942.1:p.Val276Ile | |
| NM_001322014.1:c.1399G>A | NP_001308943.1:p.Val467Ile | |
| NM_001322015.1:c.1090G>A | NP_001308944.1:p.Val364Ile | |
| NR_136154.1:n.1486G>A | ||
| XM_006715744.4:c.466G>A | XP_006715807.1:p.Val156Ile | |
| XM_017012342.2:c.466G>A | XP_016867831.1:p.Val156Ile | |
| XM_024446800.1:c.838G>A | XP_024302568.1:p.Val280Ile | |
| NM_000535.7:c.1399G>A MANE Select | NP_000526.2:p.Val467Ile | |
| NM_001322003.2:c.994G>A | NP_001308932.1:p.Val332Ile | |
| NM_001322004.2:c.994G>A | NP_001308933.1:p.Val332Ile | |
| NM_001322005.2:c.994G>A | NP_001308934.1:p.Val332Ile | |
| NM_001322006.2:c.1243G>A | NP_001308935.1:p.Val415Ile | |
| NM_001322008.2:c.1081G>A | NP_001308937.1:p.Val361Ile | |
| NM_001322009.2:c.994G>A | NP_001308938.1:p.Val332Ile | |
| NM_001322010.2:c.838G>A | NP_001308939.1:p.Val280Ile | |
| NM_001322011.2:c.466G>A | NP_001308940.1:p.Val156Ile | |
| NM_001322012.2:c.466G>A | NP_001308941.1:p.Val156Ile | |
| NM_001322013.2:c.826G>A | NP_001308942.1:p.Val276Ile | |
| NM_001322014.2:c.1399G>A | NP_001308943.1:p.Val467Ile | |
| NM_001322015.2:c.1090G>A | NP_001308944.1:p.Val364Ile | |
| NM_001322007.2:c.1081G>A | NP_001308936.1:p.Val361Ile |