Linked Data
ClinVar Variation Id:
233391
dbSNP Id:
rs876660374
gnomAD v2:
7-6017332-A-T
gnomAD v3:
7-5977701-A-T
gnomAD v4:
7-5977701-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977701A>T , CM000669.2:g.5977701A>T | GRCh38 |
| NC_000007.13:g.6017332A>T , CM000669.1:g.6017332A>T | GRCh37 |
| NC_000007.12:g.5983858A>T | NCBI36 |
| NG_008466.1:g.36406T>A , LRG_161:g.36406T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1728T>A | ENSP00000514615.2:n.*1728T>A | |
| ENST00000699840.2:c.2329T>A | ENSP00000514638.2:p.Phe777Ile | |
| ENST00000699930.2:c.2224T>A | ENSP00000514695.2:p.Phe742Ile | |
| ENST00000406569.8:c.1692T>A | ENSP00000514464.1:p.Pro564= | |
| ENST00000644110.2:c.*1926T>A | ENSP00000496392.2:n.*1926T>A | |
| ENST00000699752.1:c.2176T>A | ENSP00000514561.1:p.Phe726Ile | |
| ENST00000699753.1:c.*1753T>A | ENSP00000514562.1:n.*1753T>A | |
| ENST00000699754.1:c.2134T>A | ENSP00000514563.1:p.Phe712Ile | |
| ENST00000699755.1:c.*1731T>A | ENSP00000514564.1:n.*1731T>A | |
| ENST00000699756.1:c.*1919T>A | ENSP00000514565.1:n.*1919T>A | |
| ENST00000699757.1:c.*1589T>A | ENSP00000514566.1:n.*1589T>A | |
| ENST00000699758.1:c.*1589T>A | ENSP00000514567.1:n.*1589T>A | |
| ENST00000699759.1:n.3186T>A | ||
| ENST00000699760.1:c.2014T>A | ENSP00000514568.1:p.Phe672Ile | |
| ENST00000699761.1:c.1927T>A | ENSP00000514569.1:p.Phe643Ile | |
| ENST00000699762.1:c.1759T>A | ENSP00000514570.1:p.Phe587Ile | |
| ENST00000699763.1:c.*1422T>A | ENSP00000514571.1:n.*1422T>A | |
| ENST00000699764.1:c.*650T>A | ENSP00000514572.1:n.*650T>A | |
| ENST00000699765.1:c.*1327T>A | ENSP00000514573.1:n.*1327T>A | |
| ENST00000699766.1:c.2365T>A | ENSP00000514574.1:p.Phe789Ile | |
| ENST00000699767.1:c.2289T>A | ENSP00000514575.1:p.Pro763= | |
| ENST00000699768.1:c.2188T>A | ENSP00000514576.1:p.Phe730Ile | |
| ENST00000699811.1:c.1927T>A | ENSP00000514614.1:p.Phe643Ile | |
| ENST00000699813.1:n.2445T>A | ||
| ENST00000699814.1:c.1955T>A | ||
| ENST00000699815.1:c.*1863T>A | ENSP00000514616.1:n.*1863T>A | |
| ENST00000699816.1:c.*1222T>A | ENSP00000514617.1:n.*1222T>A | |
| ENST00000699817.1:c.*1926T>A | ENSP00000514618.1:n.*1926T>A | |
| ENST00000699818.1:c.1927T>A | ENSP00000514619.1:p.Phe643Ile | |
| ENST00000699819.1:c.*1489T>A | ENSP00000514620.1:n.*1489T>A | |
| ENST00000699820.1:c.*270T>A | ENSP00000514621.1:n.*270T>A | |
| ENST00000699821.1:c.1960T>A | ENSP00000514622.1:p.Phe654Ile | |
| ENST00000699822.1:c.*1784T>A | ENSP00000514623.1:n.*1784T>A | |
| ENST00000699823.1:c.1927T>A | ENSP00000514624.1:p.Phe643Ile | |
| ENST00000699824.1:c.*1835T>A | ENSP00000514625.1:n.*1835T>A | |
| ENST00000699825.1:c.1771T>A | ENSP00000514626.1:p.Phe591Ile | |
| ENST00000699826.1:c.*1731T>A | ENSP00000514627.1:n.*1731T>A | |
| ENST00000699827.1:c.2164T>A | ENSP00000514628.1:p.Phe722Ile | |
| ENST00000699828.1:c.*1422T>A | ENSP00000514629.1:n.*1422T>A | |
| ENST00000699833.1:n.4104T>A | ||
| ENST00000699837.1:c.1927T>A | ENSP00000514635.1:p.Phe643Ile | |
| ENST00000699838.1:c.*2232T>A | ENSP00000514636.1:n.*2232T>A | |
| ENST00000699839.1:c.2518T>A | ENSP00000514637.1:p.Phe840Ile | |
| ENST00000699916.1:c.*1589T>A | ENSP00000514684.1:n.*1589T>A | |
| ENST00000699917.1:c.*1781T>A | ENSP00000514685.1:n.*1781T>A | |
| ENST00000699918.1:c.*1833T>A | ENSP00000514686.1:n.*1833T>A | |
| ENST00000699919.1:c.*1919T>A | ENSP00000514687.1:n.*1919T>A | |
| ENST00000699920.1:c.*1968T>A | ENSP00000514688.1:n.*1968T>A | |
| ENST00000699928.1:c.*270T>A | ENSP00000514693.1:n.*270T>A | |
| ENST00000699951.1:c.*1385T>A | ENSP00000514706.1:n.*1385T>A | |
| ENST00000699952.1:c.804-4159T>A | ENSP00000514707.1:n.804-4159T>A | |
| ENST00000265849.12:c.2332T>A MANE Select | ENSP00000265849.7:p.Phe778Ile | |
| ENST00000642292.1:c.1927T>A | ENSP00000495524.1:p.Phe643Ile | |
| ENST00000642456.1:c.1927T>A | ENSP00000493814.1:p.Phe643Ile | |
| ENST00000643595.1:c.*1731T>A | ENSP00000494497.1:n.*1731T>A | |
| ENST00000644110.1:c.2014T>A | ENSP00000496392.1:p.Phe672Ile | |
| ENST00000265849.11:c.2332T>A | ENSP00000265849.7:p.Phe778Ile | |
| ENST00000382321.5:c.1129T>A | ENSP00000371758.4:p.Phe377Ile | |
| ENST00000406569.7:n.1692T>A | ||
| ENST00000441476.6:c.2014T>A | ENSP00000392843.2:p.Phe672Ile | |
| NM_000535.5:c.2332T>A , LRG_161t1:c.2332T>A | NP_000526.1:p.Phe778Ile | |
| NR_003085.2:n.2414T>A | ||
| XM_006715742.2:c.2326T>A | XP_006715805.1:p.Phe776Ile | |
| XM_006715744.2:c.1399T>A | XP_006715807.1:p.Phe467Ile | |
| XM_011515427.1:c.2377T>A | XP_011513729.1:p.Phe793Ile | |
| XM_011515428.1:c.2221T>A | XP_011513730.1:p.Phe741Ile | |
| XM_011515429.1:c.2014T>A | XP_011513731.1:p.Phe672Ile | |
| XM_011515430.1:c.2014T>A | XP_011513732.1:p.Phe672Ile | |
| NM_000535.6:c.2332T>A | NP_000526.2:p.Phe778Ile | |
| NM_001322003.1:c.1927T>A | NP_001308932.1:p.Phe643Ile | |
| NM_001322004.1:c.1927T>A | NP_001308933.1:p.Phe643Ile | |
| NM_001322005.1:c.1927T>A | NP_001308934.1:p.Phe643Ile | |
| NM_001322006.1:c.2176T>A | NP_001308935.1:p.Phe726Ile | |
| NM_001322007.1:c.2014T>A | NP_001308936.1:p.Phe672Ile | |
| NM_001322008.1:c.2014T>A | NP_001308937.1:p.Phe672Ile | |
| NM_001322009.1:c.1960T>A | NP_001308938.1:p.Phe654Ile | |
| NM_001322010.1:c.1771T>A | NP_001308939.1:p.Phe591Ile | |
| NM_001322011.1:c.1399T>A | NP_001308940.1:p.Phe467Ile | |
| NM_001322012.1:c.1399T>A | NP_001308941.1:p.Phe467Ile | |
| NM_001322013.1:c.1759T>A | NP_001308942.1:p.Phe587Ile | |
| NM_001322014.1:c.2365T>A | NP_001308943.1:p.Phe789Ile | |
| NM_001322015.1:c.2023T>A | NP_001308944.1:p.Phe675Ile | |
| NR_136154.1:n.2376T>A | ||
| XM_006715744.4:c.1399T>A | XP_006715807.1:p.Phe467Ile | |
| XM_017012342.2:c.1399T>A | XP_016867831.1:p.Phe467Ile | |
| XM_024446800.1:c.1771T>A | XP_024302568.1:p.Phe591Ile | |
| NM_000535.7:c.2332T>A MANE Select | NP_000526.2:p.Phe778Ile | |
| NM_001322003.2:c.1927T>A | NP_001308932.1:p.Phe643Ile | |
| NM_001322004.2:c.1927T>A | NP_001308933.1:p.Phe643Ile | |
| NM_001322005.2:c.1927T>A | NP_001308934.1:p.Phe643Ile | |
| NM_001322006.2:c.2176T>A | NP_001308935.1:p.Phe726Ile | |
| NM_001322008.2:c.2014T>A | NP_001308937.1:p.Phe672Ile | |
| NM_001322009.2:c.1960T>A | NP_001308938.1:p.Phe654Ile | |
| NM_001322010.2:c.1771T>A | NP_001308939.1:p.Phe591Ile | |
| NM_001322011.2:c.1399T>A | NP_001308940.1:p.Phe467Ile | |
| NM_001322012.2:c.1399T>A | NP_001308941.1:p.Phe467Ile | |
| NM_001322013.2:c.1759T>A | NP_001308942.1:p.Phe587Ile | |
| NM_001322014.2:c.2365T>A | NP_001308943.1:p.Phe789Ile | |
| NM_001322015.2:c.2023T>A | NP_001308944.1:p.Phe675Ile | |
| NM_001322007.2:c.2014T>A | NP_001308936.1:p.Phe672Ile |