Linked Data
ClinVar Variation Id:
411067
dbSNP Id:
rs755960629
ExAC:
7:6031688 C / A
gnomAD v2:
7-6031688-C-A
gnomAD v3:
7-5992057-C-A
gnomAD v4:
7-5992057-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5992057C>A , CM000669.2:g.5992057C>A | GRCh38 |
| NC_000007.13:g.6031688C>A , CM000669.1:g.6031688C>A | GRCh37 |
| NC_000007.12:g.5998214C>A | NCBI36 |
| NG_008466.1:g.22050G>T , LRG_161:g.22050G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*300G>T | ENSP00000514615.2:n.*300G>T | |
| ENST00000699840.2:c.901G>T | ENSP00000514638.2:p.Val301Phe | |
| ENST00000699930.2:c.796G>T | ENSP00000514695.2:p.Val266Phe | |
| ENST00000406569.8:c.904G>T | ENSP00000514464.1:p.Val302Phe | |
| ENST00000644110.2:c.*498G>T | ENSP00000496392.2:n.*498G>T | |
| ENST00000699752.1:c.904G>T | ENSP00000514561.1:p.Val302Phe | |
| ENST00000699753.1:c.*203G>T | ENSP00000514562.1:n.*203G>T | |
| ENST00000699754.1:c.706G>T | ENSP00000514563.1:p.Val236Phe | |
| ENST00000699755.1:c.*303G>T | ENSP00000514564.1:n.*303G>T | |
| ENST00000699756.1:c.*491G>T | ENSP00000514565.1:n.*491G>T | |
| ENST00000699757.1:c.*161G>T | ENSP00000514566.1:n.*161G>T | |
| ENST00000699758.1:c.*161G>T | ENSP00000514567.1:n.*161G>T | |
| ENST00000699759.1:n.1758G>T | ||
| ENST00000699760.1:c.586G>T | ENSP00000514568.1:p.Val196Phe | |
| ENST00000699761.1:c.499G>T | ENSP00000514569.1:p.Val167Phe | |
| ENST00000699762.1:c.331G>T | ENSP00000514570.1:p.Val111Phe | |
| ENST00000699763.1:c.499G>T | ENSP00000514571.1:p.Val167Phe | |
| ENST00000699764.1:c.904G>T | ENSP00000514572.1:p.Val302Phe | |
| ENST00000699765.1:c.486G>T | ENSP00000514573.1:p.Ter162Tyr | |
| ENST00000699766.1:c.904G>T | ENSP00000514574.1:p.Val302Phe | |
| ENST00000699767.1:c.904G>T | ENSP00000514575.1:p.Val302Phe | |
| ENST00000699768.1:c.904G>T | ENSP00000514576.1:p.Val302Phe | |
| ENST00000699811.1:c.499G>T | ENSP00000514614.1:p.Val167Phe | |
| ENST00000699813.1:n.1017G>T | ||
| ENST00000699814.1:c.527G>T | ||
| ENST00000699815.1:c.*396G>T | ENSP00000514616.1:n.*396G>T | |
| ENST00000699816.1:c.499G>T | ENSP00000514617.1:p.Val167Phe | |
| ENST00000699817.1:c.*498G>T | ENSP00000514618.1:n.*498G>T | |
| ENST00000699818.1:c.499G>T | ENSP00000514619.1:p.Val167Phe | |
| ENST00000699819.1:c.*61G>T | ENSP00000514620.1:n.*61G>T | |
| ENST00000699820.1:c.904G>T | ENSP00000514621.1:p.Val302Phe | |
| ENST00000699821.1:c.499G>T | ENSP00000514622.1:p.Val167Phe | |
| ENST00000699822.1:c.*356G>T | ENSP00000514623.1:n.*356G>T | |
| ENST00000699823.1:c.499G>T | ENSP00000514624.1:p.Val167Phe | |
| ENST00000699824.1:c.*407G>T | ENSP00000514625.1:n.*407G>T | |
| ENST00000699825.1:c.499G>T | ENSP00000514626.1:p.Val167Phe | |
| ENST00000699826.1:c.*303G>T | ENSP00000514627.1:n.*303G>T | |
| ENST00000699827.1:c.736G>T | ENSP00000514628.1:p.Val246Phe | |
| ENST00000699828.1:c.904G>T | ENSP00000514629.1:p.Val302Phe | |
| ENST00000699829.1:c.*405G>T | ENSP00000514630.1:n.*405G>T | |
| ENST00000699830.1:c.*303G>T | ENSP00000514631.1:n.*303G>T | |
| ENST00000699833.1:n.2676G>T | ||
| ENST00000699837.1:c.499G>T | ENSP00000514635.1:p.Val167Phe | |
| ENST00000699838.1:c.*804G>T | ENSP00000514636.1:n.*804G>T | |
| ENST00000699839.1:c.1090G>T | ENSP00000514637.1:p.Val364Phe | |
| ENST00000699840.1:c.901G>T | ENSP00000514638.1:p.Val301Phe | |
| ENST00000699916.1:c.*161G>T | ENSP00000514684.1:n.*161G>T | |
| ENST00000699917.1:c.*353G>T | ENSP00000514685.1:n.*353G>T | |
| ENST00000699918.1:c.*405G>T | ENSP00000514686.1:n.*405G>T | |
| ENST00000699919.1:c.*491G>T | ENSP00000514687.1:n.*491G>T | |
| ENST00000699920.1:c.*540G>T | ENSP00000514688.1:n.*540G>T | |
| ENST00000699928.1:c.904G>T | ENSP00000514693.1:p.Val302Phe | |
| ENST00000699929.1:c.*205G>T | ENSP00000514694.1:n.*205G>T | |
| ENST00000699930.1:c.796G>T | ENSP00000514695.1:p.Val266Phe | |
| ENST00000699931.1:n.2332G>T | ||
| ENST00000699932.1:c.804G>T | ENSP00000514696.1:p.Ter268Tyr | |
| ENST00000699933.1:n.884G>T | ||
| ENST00000699951.1:c.804G>T | ENSP00000514706.1:p.Ter268Tyr | |
| ENST00000699952.1:c.803+5269G>T | ENSP00000514707.1:n.803+5269G>T | |
| ENST00000699953.1:c.*11G>T | ENSP00000514708.1:n.*11G>T | |
| ENST00000699954.1:c.*205G>T | ENSP00000514709.1:n.*205G>T | |
| ENST00000265849.12:c.904G>T MANE Select | ENSP00000265849.7:p.Val302Phe | |
| ENST00000642292.1:c.499G>T | ENSP00000495524.1:p.Val167Phe | |
| ENST00000642456.1:c.499G>T | ENSP00000493814.1:p.Val167Phe | |
| ENST00000643595.1:c.*303G>T | ENSP00000494497.1:n.*303G>T | |
| ENST00000644110.1:c.586G>T | ENSP00000496392.1:p.Val196Phe | |
| ENST00000265849.11:c.904G>T | ENSP00000265849.7:p.Val302Phe | |
| ENST00000382321.5:c.803+5269G>T | ENSP00000371758.4:n.803+5269G>T | |
| ENST00000406569.7:n.904G>T | ||
| ENST00000441476.6:c.586G>T | ENSP00000392843.2:p.Val196Phe | |
| ENST00000469652.1:n.63-9152G>T | ||
| NM_000535.5:c.904G>T , LRG_161t1:c.904G>T | NP_000526.1:p.Val302Phe | |
| NR_003085.2:n.986G>T | ||
| XM_006715742.2:c.898G>T | XP_006715805.1:p.Val300Phe | |
| XM_006715744.2:c.-30G>T | XP_006715807.1:n.-30G>T | |
| XM_011515427.1:c.949G>T | XP_011513729.1:p.Val317Phe | |
| XM_011515428.1:c.949G>T | XP_011513730.1:p.Val317Phe | |
| XM_011515429.1:c.586G>T | XP_011513731.1:p.Val196Phe | |
| XM_011515430.1:c.586G>T | XP_011513732.1:p.Val196Phe | |
| NM_000535.6:c.904G>T | NP_000526.2:p.Val302Phe | |
| NM_001322003.1:c.499G>T | NP_001308932.1:p.Val167Phe | |
| NM_001322004.1:c.499G>T | NP_001308933.1:p.Val167Phe | |
| NM_001322005.1:c.499G>T | NP_001308934.1:p.Val167Phe | |
| NM_001322006.1:c.904G>T | NP_001308935.1:p.Val302Phe | |
| NM_001322007.1:c.586G>T | NP_001308936.1:p.Val196Phe | |
| NM_001322008.1:c.586G>T | NP_001308937.1:p.Val196Phe | |
| NM_001322009.1:c.499G>T | NP_001308938.1:p.Val167Phe | |
| NM_001322010.1:c.499G>T | NP_001308939.1:p.Val167Phe | |
| NM_001322011.1:c.-30G>T | NP_001308940.1:n.-30G>T | |
| NM_001322012.1:c.-30G>T | NP_001308941.1:n.-30G>T | |
| NM_001322013.1:c.331G>T | NP_001308942.1:p.Val111Phe | |
| NM_001322014.1:c.904G>T | NP_001308943.1:p.Val302Phe | |
| NM_001322015.1:c.595G>T | NP_001308944.1:p.Val199Phe | |
| NR_136154.1:n.991G>T | ||
| XM_006715744.4:c.-30G>T | XP_006715807.1:n.-30G>T | |
| XM_017012342.2:c.-30G>T | XP_016867831.1:n.-30G>T | |
| XM_024446800.1:c.499G>T | XP_024302568.1:p.Val167Phe | |
| NM_000535.7:c.904G>T MANE Select | NP_000526.2:p.Val302Phe | |
| NM_001322003.2:c.499G>T | NP_001308932.1:p.Val167Phe | |
| NM_001322004.2:c.499G>T | NP_001308933.1:p.Val167Phe | |
| NM_001322005.2:c.499G>T | NP_001308934.1:p.Val167Phe | |
| NM_001322006.2:c.904G>T | NP_001308935.1:p.Val302Phe | |
| NM_001322008.2:c.586G>T | NP_001308937.1:p.Val196Phe | |
| NM_001322009.2:c.499G>T | NP_001308938.1:p.Val167Phe | |
| NM_001322010.2:c.499G>T | NP_001308939.1:p.Val167Phe | |
| NM_001322011.2:c.-30G>T | NP_001308940.1:n.-30G>T | |
| NM_001322012.2:c.-30G>T | NP_001308941.1:n.-30G>T | |
| NM_001322013.2:c.331G>T | NP_001308942.1:p.Val111Phe | |
| NM_001322014.2:c.904G>T | NP_001308943.1:p.Val302Phe | |
| NM_001322015.2:c.595G>T | NP_001308944.1:p.Val199Phe | |
| NM_001322007.2:c.586G>T | NP_001308936.1:p.Val196Phe |