Linked Data
ClinVar Variation Id:
41714
ClinVar RCV Id:
RCV000034630
RCV000115698
RCV000123089
RCV000212836
RCV000515284
RCV001083711
RCV001159382
RCV003149612
RCV003944883
dbSNP Id:
rs201343342
ExAC:
7:6045633 A / G
gnomAD v2:
7-6045633-A-G
gnomAD v3:
7-6006002-A-G
gnomAD v4:
7-6006002-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6006002A>G , CM000669.2:g.6006002A>G | GRCh38 |
| NC_000007.13:g.6045633A>G , CM000669.1:g.6045633A>G | GRCh37 |
| NC_000007.12:g.6012159A>G | NCBI36 |
| NG_008466.1:g.8105T>C , LRG_161:g.8105T>C | |
| NG_050738.1:g.1752A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.53T>C | ENSP00000514615.2:p.Ile18Thr | |
| ENST00000699840.2:c.53T>C | ENSP00000514638.2:p.Ile18Thr | |
| ENST00000699930.2:c.53T>C | ENSP00000514695.2:p.Ile18Thr | |
| ENST00000406569.8:c.53T>C | ENSP00000514464.1:p.Ile18Thr | |
| ENST00000415839.3:n.118T>C | ||
| ENST00000644110.2:c.53T>C | ENSP00000496392.2:p.Ile18Thr | |
| ENST00000699752.1:c.53T>C | ENSP00000514561.1:p.Ile18Thr | |
| ENST00000699753.1:c.-353T>C | ENSP00000514562.1:n.-353T>C | |
| ENST00000699754.1:c.53T>C | ENSP00000514563.1:p.Ile18Thr | |
| ENST00000699755.1:c.-353T>C | ENSP00000514564.1:n.-353T>C | |
| ENST00000699756.1:c.53T>C | ENSP00000514565.1:p.Ile18Thr | |
| ENST00000699757.1:c.-163T>C | ENSP00000514566.1:n.-163T>C | |
| ENST00000699758.1:c.53T>C | ENSP00000514567.1:p.Ile18Thr | |
| ENST00000699759.1:n.125T>C | ||
| ENST00000699760.1:c.-52-1944T>C | ENSP00000514568.1:n.-52-1944T>C | |
| ENST00000699761.1:c.-300T>C | ENSP00000514569.1:n.-300T>C | |
| ENST00000699762.1:c.-353T>C | ENSP00000514570.1:n.-353T>C | |
| ENST00000699763.1:c.-353T>C | ENSP00000514571.1:n.-353T>C | |
| ENST00000699764.1:c.53T>C | ENSP00000514572.1:p.Ile18Thr | |
| ENST00000699765.1:c.-163T>C | ENSP00000514573.1:n.-163T>C | |
| ENST00000699766.1:c.53T>C | ENSP00000514574.1:p.Ile18Thr | |
| ENST00000699767.1:c.53T>C | ENSP00000514575.1:p.Ile18Thr | |
| ENST00000699768.1:c.53T>C | ENSP00000514576.1:p.Ile18Thr | |
| ENST00000699769.1:n.133T>C | ||
| ENST00000699770.1:n.109T>C | ||
| ENST00000699811.1:c.-528T>C | ENSP00000514614.1:n.-528T>C | |
| ENST00000699815.1:c.-353T>C | ENSP00000514616.1:n.-353T>C | |
| ENST00000699816.1:c.-353T>C | ENSP00000514617.1:n.-353T>C | |
| ENST00000699817.1:c.53T>C | ENSP00000514618.1:p.Ile18Thr | |
| ENST00000699818.1:c.-353T>C | ENSP00000514619.1:n.-353T>C | |
| ENST00000699819.1:c.-366T>C | ENSP00000514620.1:n.-366T>C | |
| ENST00000699820.1:c.53T>C | ENSP00000514621.1:p.Ile18Thr | |
| ENST00000699821.1:c.-353T>C | ENSP00000514622.1:n.-353T>C | |
| ENST00000699822.1:c.-353T>C | ENSP00000514623.1:n.-353T>C | |
| ENST00000699823.1:c.-189-1944T>C | ENSP00000514624.1:n.-189-1944T>C | |
| ENST00000699824.1:c.53T>C | ENSP00000514625.1:p.Ile18Thr | |
| ENST00000699825.1:c.-353T>C | ENSP00000514626.1:n.-353T>C | |
| ENST00000699826.1:c.-242-1944T>C | ENSP00000514627.1:n.-242-1944T>C | |
| ENST00000699827.1:c.53T>C | ENSP00000514628.1:p.Ile18Thr | |
| ENST00000699828.1:c.53T>C | ENSP00000514629.1:p.Ile18Thr | |
| ENST00000699829.1:c.-300T>C | ENSP00000514630.1:n.-300T>C | |
| ENST00000699830.1:c.53T>C | ENSP00000514631.1:p.Ile18Thr | |
| ENST00000699831.1:n.14T>C | ||
| ENST00000699833.1:n.133T>C | ||
| ENST00000699834.1:n.259T>C | ||
| ENST00000699837.1:c.-250T>C | ENSP00000514635.1:n.-250T>C | |
| ENST00000699838.1:c.220T>C | ENSP00000514636.1:p.Leu74= | |
| ENST00000699839.1:c.239T>C | ENSP00000514637.1:p.Ile80Thr | |
| ENST00000699840.1:c.53T>C | ENSP00000514638.1:p.Ile18Thr | |
| ENST00000699916.1:c.-353T>C | ENSP00000514684.1:n.-353T>C | |
| ENST00000699917.1:c.53T>C | ENSP00000514685.1:p.Ile18Thr | |
| ENST00000699918.1:c.53T>C | ENSP00000514686.1:p.Ile18Thr | |
| ENST00000699919.1:c.53T>C | ENSP00000514687.1:p.Ile18Thr | |
| ENST00000699920.1:c.53T>C | ENSP00000514688.1:p.Ile18Thr | |
| ENST00000699928.1:c.53T>C | ENSP00000514693.1:p.Ile18Thr | |
| ENST00000699929.1:c.53T>C | ENSP00000514694.1:p.Ile18Thr | |
| ENST00000699930.1:c.53T>C | ENSP00000514695.1:p.Ile18Thr | |
| ENST00000699931.1:n.164T>C | ||
| ENST00000699932.1:c.53T>C | ENSP00000514696.1:p.Ile18Thr | |
| ENST00000699933.1:n.133T>C | ||
| ENST00000699951.1:c.53T>C | ENSP00000514706.1:p.Ile18Thr | |
| ENST00000699952.1:c.53T>C | ENSP00000514707.1:p.Ile18Thr | |
| ENST00000699953.1:c.53T>C | ENSP00000514708.1:p.Ile18Thr | |
| ENST00000699954.1:c.53T>C | ENSP00000514709.1:p.Ile18Thr | |
| ENST00000703409.1:n.252T>C | ||
| ENST00000265849.12:c.53T>C MANE Select | ENSP00000265849.7:p.Ile18Thr | |
| ENST00000642292.1:c.-242-1944T>C | ENSP00000495524.1:n.-242-1944T>C | |
| ENST00000642456.1:c.-353T>C | ENSP00000493814.1:n.-353T>C | |
| ENST00000643595.1:c.53T>C | ENSP00000494497.1:p.Ile18Thr | |
| ENST00000265849.11:c.53T>C | ENSP00000265849.7:p.Ile18Thr | |
| ENST00000380416.5:n.132T>C | ||
| ENST00000382321.5:c.53T>C | ENSP00000371758.4:p.Ile18Thr | |
| ENST00000406569.7:n.53T>C | ||
| ENST00000415839.2:n.65T>C | ||
| ENST00000441476.6:c.-163T>C | ENSP00000392843.2:n.-163T>C | |
| ENST00000469652.1:n.53T>C | ||
| NM_000535.5:c.53T>C , LRG_161t1:c.53T>C | NP_000526.1:p.Ile18Thr | |
| NR_003085.2:n.135T>C | ||
| XM_006715742.2:c.47T>C | XP_006715805.1:p.Ile16Thr | |
| XM_011515427.1:c.98T>C | XP_011513729.1:p.Ile33Thr | |
| XM_011515428.1:c.98T>C | XP_011513730.1:p.Ile33Thr | |
| XM_011515429.1:c.-163T>C | XP_011513731.1:n.-163T>C | |
| XM_011515430.1:c.-163T>C | XP_011513732.1:n.-163T>C | |
| NM_000535.6:c.53T>C | NP_000526.2:p.Ile18Thr | |
| NM_001322003.1:c.-353T>C | NP_001308932.1:n.-353T>C | |
| NM_001322004.1:c.-242-1944T>C | NP_001308933.1:n.-242-1944T>C | |
| NM_001322005.1:c.-353T>C | NP_001308934.1:n.-353T>C | |
| NM_001322006.1:c.53T>C | NP_001308935.1:p.Ile18Thr | |
| NM_001322007.1:c.-163T>C | NP_001308936.1:n.-163T>C | |
| NM_001322008.1:c.-52-1944T>C | NP_001308937.1:n.-52-1944T>C | |
| NM_001322009.1:c.-353T>C | NP_001308938.1:n.-353T>C | |
| NM_001322010.1:c.-242-1944T>C | NP_001308939.1:n.-242-1944T>C | |
| NM_001322011.1:c.-832T>C | NP_001308940.1:n.-832T>C | |
| NM_001322012.1:c.-832T>C | NP_001308941.1:n.-832T>C | |
| NM_001322013.1:c.-353T>C | NP_001308942.1:n.-353T>C | |
| NM_001322014.1:c.53T>C | NP_001308943.1:p.Ile18Thr | |
| NM_001322015.1:c.-432T>C | NP_001308944.1:n.-432T>C | |
| NR_136154.1:n.140T>C | ||
| XM_017012342.2:c.-732T>C | XP_016867831.1:n.-732T>C | |
| XM_024446800.1:c.-353T>C | XP_024302568.1:n.-353T>C | |
| NM_000535.7:c.53T>C MANE Select | NP_000526.2:p.Ile18Thr | |
| NM_001322003.2:c.-353T>C | NP_001308932.1:n.-353T>C | |
| NM_001322004.2:c.-242-1944T>C | NP_001308933.1:n.-242-1944T>C | |
| NM_001322005.2:c.-353T>C | NP_001308934.1:n.-353T>C | |
| NM_001322006.2:c.53T>C | NP_001308935.1:p.Ile18Thr | |
| NM_001322008.2:c.-52-1944T>C | NP_001308937.1:n.-52-1944T>C | |
| NM_001322009.2:c.-353T>C | NP_001308938.1:n.-353T>C | |
| NM_001322010.2:c.-242-1944T>C | NP_001308939.1:n.-242-1944T>C | |
| NM_001322011.2:c.-832T>C | NP_001308940.1:n.-832T>C | |
| NM_001322012.2:c.-832T>C | NP_001308941.1:n.-832T>C | |
| NM_001322013.2:c.-353T>C | NP_001308942.1:n.-353T>C | |
| NM_001322014.2:c.53T>C | NP_001308943.1:p.Ile18Thr | |
| NM_001322015.2:c.-432T>C | NP_001308944.1:n.-432T>C | |
| NM_001322007.2:c.-163T>C | NP_001308936.1:n.-163T>C |