Linked Data
ClinVar Variation Id:
185100
dbSNP Id:
rs755578413
ExAC:
7:6027226 C / T
gnomAD v2:
7-6027226-C-T
gnomAD v3:
7-5987595-C-T
gnomAD v4:
7-5987595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987595C>T , CM000669.2:g.5987595C>T | GRCh38 |
| NC_000007.13:g.6027226C>T , CM000669.1:g.6027226C>T | GRCh37 |
| NC_000007.12:g.5993752C>T | NCBI36 |
| NG_008466.1:g.26512G>A , LRG_161:g.26512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*566G>A | ENSP00000514615.2:n.*566G>A | |
| ENST00000699840.2:c.1167G>A | ENSP00000514638.2:p.Ala389= | |
| ENST00000699930.2:c.1062G>A | ENSP00000514695.2:p.Ala354= | |
| ENST00000406569.8:c.1170G>A | ENSP00000514464.1:p.Ala390= | |
| ENST00000644110.2:c.*764G>A | ENSP00000496392.2:n.*764G>A | |
| ENST00000699752.1:c.1014G>A | ENSP00000514561.1:p.Ala338= | |
| ENST00000699753.1:c.*591G>A | ENSP00000514562.1:n.*591G>A | |
| ENST00000699754.1:c.972G>A | ENSP00000514563.1:p.Ala324= | |
| ENST00000699755.1:c.*569G>A | ENSP00000514564.1:n.*569G>A | |
| ENST00000699756.1:c.*757G>A | ENSP00000514565.1:n.*757G>A | |
| ENST00000699757.1:c.*427G>A | ENSP00000514566.1:n.*427G>A | |
| ENST00000699758.1:c.*427G>A | ENSP00000514567.1:n.*427G>A | |
| ENST00000699759.1:n.2024G>A | ||
| ENST00000699760.1:c.852G>A | ENSP00000514568.1:p.Ala284= | |
| ENST00000699761.1:c.765G>A | ENSP00000514569.1:p.Ala255= | |
| ENST00000699762.1:c.597G>A | ENSP00000514570.1:p.Ala199= | |
| ENST00000699763.1:c.*260G>A | ENSP00000514571.1:n.*260G>A | |
| ENST00000699764.1:c.1170G>A | ENSP00000514572.1:p.Ala390= | |
| ENST00000699765.1:c.*266G>A | ENSP00000514573.1:n.*266G>A | |
| ENST00000699766.1:c.1170G>A | ENSP00000514574.1:p.Ala390= | |
| ENST00000699767.1:c.1170G>A | ENSP00000514575.1:p.Ala390= | |
| ENST00000699768.1:c.1170G>A | ENSP00000514576.1:p.Ala390= | |
| ENST00000699811.1:c.765G>A | ENSP00000514614.1:p.Ala255= | |
| ENST00000699813.1:n.1283G>A | ||
| ENST00000699814.1:c.793G>A | ||
| ENST00000699815.1:c.*701G>A | ENSP00000514616.1:n.*701G>A | |
| ENST00000699816.1:c.*60G>A | ENSP00000514617.1:n.*60G>A | |
| ENST00000699817.1:c.*764G>A | ENSP00000514618.1:n.*764G>A | |
| ENST00000699818.1:c.765G>A | ENSP00000514619.1:p.Ala255= | |
| ENST00000699819.1:c.*327G>A | ENSP00000514620.1:n.*327G>A | |
| ENST00000699820.1:c.1144+2205G>A | ENSP00000514621.1:n.1144+2205G>A | |
| ENST00000699821.1:c.765G>A | ENSP00000514622.1:p.Ala255= | |
| ENST00000699822.1:c.*622G>A | ENSP00000514623.1:n.*622G>A | |
| ENST00000699823.1:c.765G>A | ENSP00000514624.1:p.Ala255= | |
| ENST00000699824.1:c.*673G>A | ENSP00000514625.1:n.*673G>A | |
| ENST00000699825.1:c.609G>A | ENSP00000514626.1:p.Ala203= | |
| ENST00000699826.1:c.*569G>A | ENSP00000514627.1:n.*569G>A | |
| ENST00000699827.1:c.1002G>A | ENSP00000514628.1:p.Ala334= | |
| ENST00000699828.1:c.*260G>A | ENSP00000514629.1:n.*260G>A | |
| ENST00000699829.1:c.*671G>A | ENSP00000514630.1:n.*671G>A | |
| ENST00000699830.1:c.*569G>A | ENSP00000514631.1:n.*569G>A | |
| ENST00000699833.1:n.2942G>A | ||
| ENST00000699837.1:c.765G>A | ENSP00000514635.1:p.Ala255= | |
| ENST00000699838.1:c.*1070G>A | ENSP00000514636.1:n.*1070G>A | |
| ENST00000699839.1:c.1356G>A | ENSP00000514637.1:p.Ala452= | |
| ENST00000699840.1:c.1167G>A | ENSP00000514638.1:p.Ala389= | |
| ENST00000699916.1:c.*427G>A | ENSP00000514684.1:n.*427G>A | |
| ENST00000699917.1:c.*619G>A | ENSP00000514685.1:n.*619G>A | |
| ENST00000699918.1:c.*671G>A | ENSP00000514686.1:n.*671G>A | |
| ENST00000699919.1:c.*757G>A | ENSP00000514687.1:n.*757G>A | |
| ENST00000699920.1:c.*806G>A | ENSP00000514688.1:n.*806G>A | |
| ENST00000699928.1:c.988+4378G>A | ENSP00000514693.1:n.988+4378G>A | |
| ENST00000699929.1:c.*471G>A | ENSP00000514694.1:n.*471G>A | |
| ENST00000699930.1:c.1062G>A | ENSP00000514695.1:p.Ala354= | |
| ENST00000699931.1:n.2598G>A | ||
| ENST00000699932.1:c.*388G>A | ENSP00000514696.1:n.*388G>A | |
| ENST00000699951.1:c.*266G>A | ENSP00000514706.1:n.*266G>A | |
| ENST00000699952.1:c.803+9731G>A | ENSP00000514707.1:n.803+9731G>A | |
| ENST00000699953.1:c.*277G>A | ENSP00000514708.1:n.*277G>A | |
| ENST00000699954.1:c.*471G>A | ENSP00000514709.1:n.*471G>A | |
| ENST00000265849.12:c.1170G>A MANE Select | ENSP00000265849.7:p.Ala390= | |
| ENST00000642292.1:c.765G>A | ENSP00000495524.1:p.Ala255= | |
| ENST00000642456.1:c.765G>A | ENSP00000493814.1:p.Ala255= | |
| ENST00000643595.1:c.*569G>A | ENSP00000494497.1:n.*569G>A | |
| ENST00000644110.1:c.852G>A | ENSP00000496392.1:p.Ala284= | |
| ENST00000265849.11:c.1170G>A | ENSP00000265849.7:p.Ala390= | |
| ENST00000382321.5:c.804-4604G>A | ENSP00000371758.4:n.804-4604G>A | |
| ENST00000406569.7:n.1170G>A | ||
| ENST00000441476.6:c.852G>A | ENSP00000392843.2:p.Ala284= | |
| ENST00000469652.1:n.63-4690G>A | ||
| NM_000535.5:c.1170G>A , LRG_161t1:c.1170G>A | NP_000526.1:p.Ala390= | |
| NR_003085.2:n.1252G>A | ||
| XM_006715742.2:c.1164G>A | XP_006715805.1:p.Ala388= | |
| XM_006715744.2:c.237G>A | XP_006715807.1:p.Ala79= | |
| XM_011515427.1:c.1215G>A | XP_011513729.1:p.Ala405= | |
| XM_011515428.1:c.1059G>A | XP_011513730.1:p.Ala353= | |
| XM_011515429.1:c.852G>A | XP_011513731.1:p.Ala284= | |
| XM_011515430.1:c.852G>A | XP_011513732.1:p.Ala284= | |
| NM_000535.6:c.1170G>A | NP_000526.2:p.Ala390= | |
| NM_001322003.1:c.765G>A | NP_001308932.1:p.Ala255= | |
| NM_001322004.1:c.765G>A | NP_001308933.1:p.Ala255= | |
| NM_001322005.1:c.765G>A | NP_001308934.1:p.Ala255= | |
| NM_001322006.1:c.1014G>A | NP_001308935.1:p.Ala338= | |
| NM_001322007.1:c.852G>A | NP_001308936.1:p.Ala284= | |
| NM_001322008.1:c.852G>A | NP_001308937.1:p.Ala284= | |
| NM_001322009.1:c.765G>A | NP_001308938.1:p.Ala255= | |
| NM_001322010.1:c.609G>A | NP_001308939.1:p.Ala203= | |
| NM_001322011.1:c.237G>A | NP_001308940.1:p.Ala79= | |
| NM_001322012.1:c.237G>A | NP_001308941.1:p.Ala79= | |
| NM_001322013.1:c.597G>A | NP_001308942.1:p.Ala199= | |
| NM_001322014.1:c.1170G>A | NP_001308943.1:p.Ala390= | |
| NM_001322015.1:c.861G>A | NP_001308944.1:p.Ala287= | |
| NR_136154.1:n.1257G>A | ||
| XM_006715744.4:c.237G>A | XP_006715807.1:p.Ala79= | |
| XM_017012342.2:c.237G>A | XP_016867831.1:p.Ala79= | |
| XM_024446800.1:c.609G>A | XP_024302568.1:p.Ala203= | |
| NM_000535.7:c.1170G>A MANE Select | NP_000526.2:p.Ala390= | |
| NM_001322003.2:c.765G>A | NP_001308932.1:p.Ala255= | |
| NM_001322004.2:c.765G>A | NP_001308933.1:p.Ala255= | |
| NM_001322005.2:c.765G>A | NP_001308934.1:p.Ala255= | |
| NM_001322006.2:c.1014G>A | NP_001308935.1:p.Ala338= | |
| NM_001322008.2:c.852G>A | NP_001308937.1:p.Ala284= | |
| NM_001322009.2:c.765G>A | NP_001308938.1:p.Ala255= | |
| NM_001322010.2:c.609G>A | NP_001308939.1:p.Ala203= | |
| NM_001322011.2:c.237G>A | NP_001308940.1:p.Ala79= | |
| NM_001322012.2:c.237G>A | NP_001308941.1:p.Ala79= | |
| NM_001322013.2:c.597G>A | NP_001308942.1:p.Ala199= | |
| NM_001322014.2:c.1170G>A | NP_001308943.1:p.Ala390= | |
| NM_001322015.2:c.861G>A | NP_001308944.1:p.Ala287= | |
| NM_001322007.2:c.852G>A | NP_001308936.1:p.Ala284= |