Linked Data
ClinVar Variation Id:
127783
ClinVar RCV Id:
RCV000115687
RCV000196074
RCV000212874
RCV000656952
RCV003153372
RCV003492487
RCV003467055
dbSNP Id:
rs375968016
ExAC:
7:6017227 G / A
gnomAD v2:
7-6017227-G-A
gnomAD v3:
7-5977596-G-A
gnomAD v4:
7-5977596-G-A
PubMed:
PMID:26900293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977596G>A , CM000669.2:g.5977596G>A | GRCh38 |
| NC_000007.13:g.6017227G>A , CM000669.1:g.6017227G>A | GRCh37 |
| NC_000007.12:g.5983753G>A | NCBI36 |
| NG_008466.1:g.36511C>T , LRG_161:g.36511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1833C>T | ENSP00000514615.2:n.*1833C>T | |
| ENST00000699840.2:c.2434C>T | ENSP00000514638.2:p.Arg812Trp | |
| ENST00000699930.2:c.2329C>T | ENSP00000514695.2:p.Arg777Trp | |
| ENST00000406569.8:c.1797C>T | ENSP00000514464.1:n.1797C>T | |
| ENST00000644110.2:c.*2031C>T | ENSP00000496392.2:n.*2031C>T | |
| ENST00000699752.1:c.2281C>T | ENSP00000514561.1:p.Arg761Trp | |
| ENST00000699753.1:c.*1858C>T | ENSP00000514562.1:n.*1858C>T | |
| ENST00000699754.1:c.2239C>T | ENSP00000514563.1:p.Arg747Trp | |
| ENST00000699755.1:c.*1836C>T | ENSP00000514564.1:n.*1836C>T | |
| ENST00000699756.1:c.*2024C>T | ENSP00000514565.1:n.*2024C>T | |
| ENST00000699757.1:c.*1694C>T | ENSP00000514566.1:n.*1694C>T | |
| ENST00000699758.1:c.*1694C>T | ENSP00000514567.1:n.*1694C>T | |
| ENST00000699759.1:n.3291C>T | ||
| ENST00000699760.1:c.2119C>T | ENSP00000514568.1:p.Arg707Trp | |
| ENST00000699761.1:c.2032C>T | ENSP00000514569.1:p.Arg678Trp | |
| ENST00000699762.1:c.1864C>T | ENSP00000514570.1:p.Arg622Trp | |
| ENST00000699763.1:c.*1527C>T | ENSP00000514571.1:n.*1527C>T | |
| ENST00000699764.1:c.*755C>T | ENSP00000514572.1:n.*755C>T | |
| ENST00000699765.1:c.*1432C>T | ENSP00000514573.1:n.*1432C>T | |
| ENST00000699766.1:c.2470C>T | ENSP00000514574.1:p.Arg824Trp | |
| ENST00000699767.1:c.*78C>T | ENSP00000514575.1:n.*78C>T | |
| ENST00000699768.1:c.2293C>T | ENSP00000514576.1:p.Arg765Trp | |
| ENST00000699811.1:c.2032C>T | ENSP00000514614.1:p.Arg678Trp | |
| ENST00000699813.1:n.2550C>T | ||
| ENST00000699814.1:c.2060C>T | ||
| ENST00000699815.1:c.*1968C>T | ENSP00000514616.1:n.*1968C>T | |
| ENST00000699816.1:c.*1327C>T | ENSP00000514617.1:n.*1327C>T | |
| ENST00000699817.1:c.*2031C>T | ENSP00000514618.1:n.*2031C>T | |
| ENST00000699818.1:c.2032C>T | ENSP00000514619.1:p.Arg678Trp | |
| ENST00000699819.1:c.*1594C>T | ENSP00000514620.1:n.*1594C>T | |
| ENST00000699820.1:c.*375C>T | ENSP00000514621.1:n.*375C>T | |
| ENST00000699821.1:c.2065C>T | ENSP00000514622.1:p.Arg689Trp | |
| ENST00000699822.1:c.*1889C>T | ENSP00000514623.1:n.*1889C>T | |
| ENST00000699823.1:c.2032C>T | ENSP00000514624.1:p.Arg678Trp | |
| ENST00000699824.1:c.*1940C>T | ENSP00000514625.1:n.*1940C>T | |
| ENST00000699825.1:c.1876C>T | ENSP00000514626.1:p.Arg626Trp | |
| ENST00000699826.1:c.*1836C>T | ENSP00000514627.1:n.*1836C>T | |
| ENST00000699827.1:c.2269C>T | ENSP00000514628.1:p.Arg757Trp | |
| ENST00000699828.1:c.*1527C>T | ENSP00000514629.1:n.*1527C>T | |
| ENST00000699833.1:n.4209C>T | ||
| ENST00000699837.1:c.2032C>T | ENSP00000514635.1:p.Arg678Trp | |
| ENST00000699838.1:c.*2337C>T | ENSP00000514636.1:n.*2337C>T | |
| ENST00000699839.1:c.2623C>T | ENSP00000514637.1:p.Arg875Trp | |
| ENST00000699916.1:c.*1694C>T | ENSP00000514684.1:n.*1694C>T | |
| ENST00000699917.1:c.*1886C>T | ENSP00000514685.1:n.*1886C>T | |
| ENST00000699918.1:c.*1938C>T | ENSP00000514686.1:n.*1938C>T | |
| ENST00000699919.1:c.*2024C>T | ENSP00000514687.1:n.*2024C>T | |
| ENST00000699920.1:c.*2073C>T | ENSP00000514688.1:n.*2073C>T | |
| ENST00000699928.1:c.*375C>T | ENSP00000514693.1:n.*375C>T | |
| ENST00000699951.1:c.*1490C>T | ENSP00000514706.1:n.*1490C>T | |
| ENST00000699952.1:c.804-4054C>T | ENSP00000514707.1:n.804-4054C>T | |
| ENST00000265849.12:c.2437C>T MANE Select | ENSP00000265849.7:p.Arg813Trp | |
| ENST00000642292.1:c.2032C>T | ENSP00000495524.1:p.Arg678Trp | |
| ENST00000642456.1:c.2032C>T | ENSP00000493814.1:p.Arg678Trp | |
| ENST00000643595.1:c.*1836C>T | ENSP00000494497.1:n.*1836C>T | |
| ENST00000644110.1:c.2119C>T | ENSP00000496392.1:p.Arg707Trp | |
| ENST00000265849.11:c.2437C>T | ENSP00000265849.7:p.Arg813Trp | |
| ENST00000382321.5:c.1234C>T | ENSP00000371758.4:p.Arg412Trp | |
| ENST00000441476.6:c.2119C>T | ENSP00000392843.2:p.Arg707Trp | |
| NM_000535.5:c.2437C>T , LRG_161t1:c.2437C>T | NP_000526.1:p.Arg813Trp | |
| NR_003085.2:n.2519C>T | ||
| XM_006715742.2:c.2431C>T | XP_006715805.1:p.Arg811Trp | |
| XM_006715744.2:c.1504C>T | XP_006715807.1:p.Arg502Trp | |
| XM_011515427.1:c.2482C>T | XP_011513729.1:p.Arg828Trp | |
| XM_011515428.1:c.2326C>T | XP_011513730.1:p.Arg776Trp | |
| XM_011515429.1:c.2119C>T | XP_011513731.1:p.Arg707Trp | |
| XM_011515430.1:c.2119C>T | XP_011513732.1:p.Arg707Trp | |
| NM_000535.6:c.2437C>T | NP_000526.2:p.Arg813Trp | |
| NM_001322003.1:c.2032C>T | NP_001308932.1:p.Arg678Trp | |
| NM_001322004.1:c.2032C>T | NP_001308933.1:p.Arg678Trp | |
| NM_001322005.1:c.2032C>T | NP_001308934.1:p.Arg678Trp | |
| NM_001322006.1:c.2281C>T | NP_001308935.1:p.Arg761Trp | |
| NM_001322007.1:c.2119C>T | NP_001308936.1:p.Arg707Trp | |
| NM_001322008.1:c.2119C>T | NP_001308937.1:p.Arg707Trp | |
| NM_001322009.1:c.2065C>T | NP_001308938.1:p.Arg689Trp | |
| NM_001322010.1:c.1876C>T | NP_001308939.1:p.Arg626Trp | |
| NM_001322011.1:c.1504C>T | NP_001308940.1:p.Arg502Trp | |
| NM_001322012.1:c.1504C>T | NP_001308941.1:p.Arg502Trp | |
| NM_001322013.1:c.1864C>T | NP_001308942.1:p.Arg622Trp | |
| NM_001322014.1:c.2470C>T | NP_001308943.1:p.Arg824Trp | |
| NM_001322015.1:c.2128C>T | NP_001308944.1:p.Arg710Trp | |
| NR_136154.1:n.2481C>T | ||
| XM_006715744.4:c.1504C>T | XP_006715807.1:p.Arg502Trp | |
| XM_017012342.2:c.1504C>T | XP_016867831.1:p.Arg502Trp | |
| XM_024446800.1:c.1876C>T | XP_024302568.1:p.Arg626Trp | |
| NM_000535.7:c.2437C>T MANE Select | NP_000526.2:p.Arg813Trp | |
| NM_001322003.2:c.2032C>T | NP_001308932.1:p.Arg678Trp | |
| NM_001322004.2:c.2032C>T | NP_001308933.1:p.Arg678Trp | |
| NM_001322005.2:c.2032C>T | NP_001308934.1:p.Arg678Trp | |
| NM_001322006.2:c.2281C>T | NP_001308935.1:p.Arg761Trp | |
| NM_001322008.2:c.2119C>T | NP_001308937.1:p.Arg707Trp | |
| NM_001322009.2:c.2065C>T | NP_001308938.1:p.Arg689Trp | |
| NM_001322010.2:c.1876C>T | NP_001308939.1:p.Arg626Trp | |
| NM_001322011.2:c.1504C>T | NP_001308940.1:p.Arg502Trp | |
| NM_001322012.2:c.1504C>T | NP_001308941.1:p.Arg502Trp | |
| NM_001322013.2:c.1864C>T | NP_001308942.1:p.Arg622Trp | |
| NM_001322014.2:c.2470C>T | NP_001308943.1:p.Arg824Trp | |
| NM_001322015.2:c.2128C>T | NP_001308944.1:p.Arg710Trp | |
| NM_001322007.2:c.2119C>T | NP_001308936.1:p.Arg707Trp |