Linked Data
ClinVar Variation Id:
127786
dbSNP Id:
rs587780057
ExAC:
7:6013096 C / T
gnomAD v2:
7-6013096-C-T
gnomAD v3:
7-5973465-C-T
gnomAD v4:
7-5973465-C-T
PubMed:
PMID:24549055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973465C>T , CM000669.2:g.5973465C>T | GRCh38 |
| NC_000007.13:g.6013096C>T , CM000669.1:g.6013096C>T | GRCh37 |
| NC_000007.12:g.5979622C>T | NCBI36 |
| NG_008466.1:g.40642G>A , LRG_161:g.40642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1919G>A | ENSP00000514615.2:n.*1919G>A | |
| ENST00000699840.2:c.2520G>A | ENSP00000514638.2:p.Trp840Ter | |
| ENST00000699930.2:c.2415G>A | ENSP00000514695.2:p.Trp805Ter | |
| ENST00000406569.8:c.1883G>A | ENSP00000514464.1:n.1883G>A | |
| ENST00000644110.2:c.*2117G>A | ENSP00000496392.2:n.*2117G>A | |
| ENST00000699752.1:c.2367G>A | ENSP00000514561.1:p.Trp789Ter | |
| ENST00000699753.1:c.*1944G>A | ENSP00000514562.1:n.*1944G>A | |
| ENST00000699754.1:c.2325G>A | ENSP00000514563.1:p.Trp775Ter | |
| ENST00000699755.1:c.*1922G>A | ENSP00000514564.1:n.*1922G>A | |
| ENST00000699756.1:c.*2110G>A | ENSP00000514565.1:n.*2110G>A | |
| ENST00000699757.1:c.*1780G>A | ENSP00000514566.1:n.*1780G>A | |
| ENST00000699758.1:c.*1780G>A | ENSP00000514567.1:n.*1780G>A | |
| ENST00000699759.1:n.3377G>A | ||
| ENST00000699760.1:c.2205G>A | ENSP00000514568.1:p.Trp735Ter | |
| ENST00000699761.1:c.2118G>A | ENSP00000514569.1:p.Trp706Ter | |
| ENST00000699762.1:c.1950G>A | ENSP00000514570.1:p.Trp650Ter | |
| ENST00000699763.1:c.*1613G>A | ENSP00000514571.1:n.*1613G>A | |
| ENST00000699764.1:c.*841G>A | ENSP00000514572.1:n.*841G>A | |
| ENST00000699765.1:c.*1518G>A | ENSP00000514573.1:n.*1518G>A | |
| ENST00000699766.1:c.2556G>A | ENSP00000514574.1:p.Trp852Ter | |
| ENST00000699767.1:c.*164G>A | ENSP00000514575.1:n.*164G>A | |
| ENST00000699768.1:c.2379G>A | ENSP00000514576.1:p.Trp793Ter | |
| ENST00000699811.1:c.2118G>A | ENSP00000514614.1:p.Trp706Ter | |
| ENST00000699813.1:n.2636G>A | ||
| ENST00000699814.1:c.2146G>A | ||
| ENST00000699815.1:c.*2054G>A | ENSP00000514616.1:n.*2054G>A | |
| ENST00000699816.1:c.*1413G>A | ENSP00000514617.1:n.*1413G>A | |
| ENST00000699817.1:c.*2117G>A | ENSP00000514618.1:n.*2117G>A | |
| ENST00000699818.1:c.2118G>A | ENSP00000514619.1:p.Trp706Ter | |
| ENST00000699819.1:c.*1680G>A | ENSP00000514620.1:n.*1680G>A | |
| ENST00000699820.1:c.*461G>A | ENSP00000514621.1:n.*461G>A | |
| ENST00000699821.1:c.2151G>A | ENSP00000514622.1:p.Trp717Ter | |
| ENST00000699822.1:c.*1975G>A | ENSP00000514623.1:n.*1975G>A | |
| ENST00000699823.1:c.2118G>A | ENSP00000514624.1:p.Trp706Ter | |
| ENST00000699824.1:c.*2026G>A | ENSP00000514625.1:n.*2026G>A | |
| ENST00000699825.1:c.1962G>A | ENSP00000514626.1:p.Trp654Ter | |
| ENST00000699826.1:c.*1922G>A | ENSP00000514627.1:n.*1922G>A | |
| ENST00000699827.1:c.2355G>A | ENSP00000514628.1:p.Trp785Ter | |
| ENST00000699828.1:c.*1613G>A | ENSP00000514629.1:n.*1613G>A | |
| ENST00000699833.1:n.4295G>A | ||
| ENST00000699837.1:c.2118G>A | ENSP00000514635.1:p.Trp706Ter | |
| ENST00000699838.1:c.*2423G>A | ENSP00000514636.1:n.*2423G>A | |
| ENST00000699839.1:c.2709G>A | ENSP00000514637.1:p.Trp903Ter | |
| ENST00000699916.1:c.*1780G>A | ENSP00000514684.1:n.*1780G>A | |
| ENST00000699917.1:c.*1972G>A | ENSP00000514685.1:n.*1972G>A | |
| ENST00000699918.1:c.*2024G>A | ENSP00000514686.1:n.*2024G>A | |
| ENST00000699919.1:c.*2110G>A | ENSP00000514687.1:n.*2110G>A | |
| ENST00000699920.1:c.*2159G>A | ENSP00000514688.1:n.*2159G>A | |
| ENST00000699928.1:c.*461G>A | ENSP00000514693.1:n.*461G>A | |
| ENST00000699951.1:c.*1576G>A | ENSP00000514706.1:n.*1576G>A | |
| ENST00000699952.1:c.*77G>A | ENSP00000514707.1:n.*77G>A | |
| ENST00000265849.12:c.2523G>A MANE Select | ENSP00000265849.7:p.Trp841Ter | |
| ENST00000642292.1:c.2118G>A | ENSP00000495524.1:p.Trp706Ter | |
| ENST00000642456.1:c.2118G>A | ENSP00000493814.1:p.Trp706Ter | |
| ENST00000643595.1:c.*1922G>A | ENSP00000494497.1:n.*1922G>A | |
| ENST00000644110.1:c.2205G>A | ENSP00000496392.1:p.Trp735Ter | |
| ENST00000265849.11:c.2523G>A | ENSP00000265849.7:p.Trp841Ter | |
| ENST00000382321.5:c.1320G>A | ENSP00000371758.4:p.Trp440Ter | |
| ENST00000441476.6:c.2205G>A | ENSP00000392843.2:p.Trp735Ter | |
| NM_000535.5:c.2523G>A , LRG_161t1:c.2523G>A | NP_000526.1:p.Trp841Ter | |
| NR_003085.2:n.2605G>A | ||
| XM_006715742.2:c.2517G>A | XP_006715805.1:p.Trp839Ter | |
| XM_006715744.2:c.1590G>A | XP_006715807.1:p.Trp530Ter | |
| XM_011515427.1:c.2568G>A | XP_011513729.1:p.Trp856Ter | |
| XM_011515428.1:c.2412G>A | XP_011513730.1:p.Trp804Ter | |
| XM_011515429.1:c.2205G>A | XP_011513731.1:p.Trp735Ter | |
| XM_011515430.1:c.2205G>A | XP_011513732.1:p.Trp735Ter | |
| NM_000535.6:c.2523G>A | NP_000526.2:p.Trp841Ter | |
| NM_001322003.1:c.2118G>A | NP_001308932.1:p.Trp706Ter | |
| NM_001322004.1:c.2118G>A | NP_001308933.1:p.Trp706Ter | |
| NM_001322005.1:c.2118G>A | NP_001308934.1:p.Trp706Ter | |
| NM_001322006.1:c.2367G>A | NP_001308935.1:p.Trp789Ter | |
| NM_001322007.1:c.2205G>A | NP_001308936.1:p.Trp735Ter | |
| NM_001322008.1:c.2205G>A | NP_001308937.1:p.Trp735Ter | |
| NM_001322009.1:c.2151G>A | NP_001308938.1:p.Trp717Ter | |
| NM_001322010.1:c.1962G>A | NP_001308939.1:p.Trp654Ter | |
| NM_001322011.1:c.1590G>A | NP_001308940.1:p.Trp530Ter | |
| NM_001322012.1:c.1590G>A | NP_001308941.1:p.Trp530Ter | |
| NM_001322013.1:c.1950G>A | NP_001308942.1:p.Trp650Ter | |
| NM_001322014.1:c.2556G>A | NP_001308943.1:p.Trp852Ter | |
| NM_001322015.1:c.2214G>A | NP_001308944.1:p.Trp738Ter | |
| NR_136154.1:n.2567G>A | ||
| XM_006715744.4:c.1590G>A | XP_006715807.1:p.Trp530Ter | |
| XM_017012342.2:c.1590G>A | XP_016867831.1:p.Trp530Ter | |
| XM_024446800.1:c.1962G>A | XP_024302568.1:p.Trp654Ter | |
| NM_000535.7:c.2523G>A MANE Select | NP_000526.2:p.Trp841Ter | |
| NM_001322003.2:c.2118G>A | NP_001308932.1:p.Trp706Ter | |
| NM_001322004.2:c.2118G>A | NP_001308933.1:p.Trp706Ter | |
| NM_001322005.2:c.2118G>A | NP_001308934.1:p.Trp706Ter | |
| NM_001322006.2:c.2367G>A | NP_001308935.1:p.Trp789Ter | |
| NM_001322008.2:c.2205G>A | NP_001308937.1:p.Trp735Ter | |
| NM_001322009.2:c.2151G>A | NP_001308938.1:p.Trp717Ter | |
| NM_001322010.2:c.1962G>A | NP_001308939.1:p.Trp654Ter | |
| NM_001322011.2:c.1590G>A | NP_001308940.1:p.Trp530Ter | |
| NM_001322012.2:c.1590G>A | NP_001308941.1:p.Trp530Ter | |
| NM_001322013.2:c.1950G>A | NP_001308942.1:p.Trp650Ter | |
| NM_001322014.2:c.2556G>A | NP_001308943.1:p.Trp852Ter | |
| NM_001322015.2:c.2214G>A | NP_001308944.1:p.Trp738Ter | |
| NM_001322007.2:c.2205G>A | NP_001308936.1:p.Trp735Ter |