Linked Data
ClinVar Variation Id:
846090
ClinVar RCV Id:
RCV001049301
dbSNP Id:
rs1781820682
gnomAD v4:
7-5977616-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977616A>G , CM000669.2:g.5977616A>G | GRCh38 |
| NC_000007.13:g.6017247A>G , CM000669.1:g.6017247A>G | GRCh37 |
| NC_000007.12:g.5983773A>G | NCBI36 |
| NG_008466.1:g.36491T>C , LRG_161:g.36491T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1813T>C | ENSP00000514615.2:n.*1813T>C | |
| ENST00000699840.2:c.2414T>C | ENSP00000514638.2:p.Met805Thr | |
| ENST00000699930.2:c.2309T>C | ENSP00000514695.2:p.Met770Thr | |
| ENST00000406569.8:c.1777T>C | ENSP00000514464.1:n.1777T>C | |
| ENST00000644110.2:c.*2011T>C | ENSP00000496392.2:n.*2011T>C | |
| ENST00000699752.1:c.2261T>C | ENSP00000514561.1:p.Met754Thr | |
| ENST00000699753.1:c.*1838T>C | ENSP00000514562.1:n.*1838T>C | |
| ENST00000699754.1:c.2219T>C | ENSP00000514563.1:p.Met740Thr | |
| ENST00000699755.1:c.*1816T>C | ENSP00000514564.1:n.*1816T>C | |
| ENST00000699756.1:c.*2004T>C | ENSP00000514565.1:n.*2004T>C | |
| ENST00000699757.1:c.*1674T>C | ENSP00000514566.1:n.*1674T>C | |
| ENST00000699758.1:c.*1674T>C | ENSP00000514567.1:n.*1674T>C | |
| ENST00000699759.1:n.3271T>C | ||
| ENST00000699760.1:c.2099T>C | ENSP00000514568.1:p.Met700Thr | |
| ENST00000699761.1:c.2012T>C | ENSP00000514569.1:p.Met671Thr | |
| ENST00000699762.1:c.1844T>C | ENSP00000514570.1:p.Met615Thr | |
| ENST00000699763.1:c.*1507T>C | ENSP00000514571.1:n.*1507T>C | |
| ENST00000699764.1:c.*735T>C | ENSP00000514572.1:n.*735T>C | |
| ENST00000699765.1:c.*1412T>C | ENSP00000514573.1:n.*1412T>C | |
| ENST00000699766.1:c.2450T>C | ENSP00000514574.1:p.Met817Thr | |
| ENST00000699767.1:c.*58T>C | ENSP00000514575.1:n.*58T>C | |
| ENST00000699768.1:c.2273T>C | ENSP00000514576.1:p.Met758Thr | |
| ENST00000699811.1:c.2012T>C | ENSP00000514614.1:p.Met671Thr | |
| ENST00000699813.1:n.2530T>C | ||
| ENST00000699814.1:c.2040T>C | ||
| ENST00000699815.1:c.*1948T>C | ENSP00000514616.1:n.*1948T>C | |
| ENST00000699816.1:c.*1307T>C | ENSP00000514617.1:n.*1307T>C | |
| ENST00000699817.1:c.*2011T>C | ENSP00000514618.1:n.*2011T>C | |
| ENST00000699818.1:c.2012T>C | ENSP00000514619.1:p.Met671Thr | |
| ENST00000699819.1:c.*1574T>C | ENSP00000514620.1:n.*1574T>C | |
| ENST00000699820.1:c.*355T>C | ENSP00000514621.1:n.*355T>C | |
| ENST00000699821.1:c.2045T>C | ENSP00000514622.1:p.Met682Thr | |
| ENST00000699822.1:c.*1869T>C | ENSP00000514623.1:n.*1869T>C | |
| ENST00000699823.1:c.2012T>C | ENSP00000514624.1:p.Met671Thr | |
| ENST00000699824.1:c.*1920T>C | ENSP00000514625.1:n.*1920T>C | |
| ENST00000699825.1:c.1856T>C | ENSP00000514626.1:p.Met619Thr | |
| ENST00000699826.1:c.*1816T>C | ENSP00000514627.1:n.*1816T>C | |
| ENST00000699827.1:c.2249T>C | ENSP00000514628.1:p.Met750Thr | |
| ENST00000699828.1:c.*1507T>C | ENSP00000514629.1:n.*1507T>C | |
| ENST00000699833.1:n.4189T>C | ||
| ENST00000699837.1:c.2012T>C | ENSP00000514635.1:p.Met671Thr | |
| ENST00000699838.1:c.*2317T>C | ENSP00000514636.1:n.*2317T>C | |
| ENST00000699839.1:c.2603T>C | ENSP00000514637.1:p.Met868Thr | |
| ENST00000699916.1:c.*1674T>C | ENSP00000514684.1:n.*1674T>C | |
| ENST00000699917.1:c.*1866T>C | ENSP00000514685.1:n.*1866T>C | |
| ENST00000699918.1:c.*1918T>C | ENSP00000514686.1:n.*1918T>C | |
| ENST00000699919.1:c.*2004T>C | ENSP00000514687.1:n.*2004T>C | |
| ENST00000699920.1:c.*2053T>C | ENSP00000514688.1:n.*2053T>C | |
| ENST00000699928.1:c.*355T>C | ENSP00000514693.1:n.*355T>C | |
| ENST00000699951.1:c.*1470T>C | ENSP00000514706.1:n.*1470T>C | |
| ENST00000699952.1:c.804-4074T>C | ENSP00000514707.1:n.804-4074T>C | |
| ENST00000265849.12:c.2417T>C MANE Select | ENSP00000265849.7:p.Met806Thr | |
| ENST00000642292.1:c.2012T>C | ENSP00000495524.1:p.Met671Thr | |
| ENST00000642456.1:c.2012T>C | ENSP00000493814.1:p.Met671Thr | |
| ENST00000643595.1:c.*1816T>C | ENSP00000494497.1:n.*1816T>C | |
| ENST00000644110.1:c.2099T>C | ENSP00000496392.1:p.Met700Thr | |
| ENST00000265849.11:c.2417T>C | ENSP00000265849.7:p.Met806Thr | |
| ENST00000382321.5:c.1214T>C | ENSP00000371758.4:p.Met405Thr | |
| ENST00000441476.6:c.2099T>C | ENSP00000392843.2:p.Met700Thr | |
| NM_000535.5:c.2417T>C , LRG_161t1:c.2417T>C | NP_000526.1:p.Met806Thr | |
| NR_003085.2:n.2499T>C | ||
| XM_006715742.2:c.2411T>C | XP_006715805.1:p.Met804Thr | |
| XM_006715744.2:c.1484T>C | XP_006715807.1:p.Met495Thr | |
| XM_011515427.1:c.2462T>C | XP_011513729.1:p.Met821Thr | |
| XM_011515428.1:c.2306T>C | XP_011513730.1:p.Met769Thr | |
| XM_011515429.1:c.2099T>C | XP_011513731.1:p.Met700Thr | |
| XM_011515430.1:c.2099T>C | XP_011513732.1:p.Met700Thr | |
| NM_000535.6:c.2417T>C | NP_000526.2:p.Met806Thr | |
| NM_001322003.1:c.2012T>C | NP_001308932.1:p.Met671Thr | |
| NM_001322004.1:c.2012T>C | NP_001308933.1:p.Met671Thr | |
| NM_001322005.1:c.2012T>C | NP_001308934.1:p.Met671Thr | |
| NM_001322006.1:c.2261T>C | NP_001308935.1:p.Met754Thr | |
| NM_001322007.1:c.2099T>C | NP_001308936.1:p.Met700Thr | |
| NM_001322008.1:c.2099T>C | NP_001308937.1:p.Met700Thr | |
| NM_001322009.1:c.2045T>C | NP_001308938.1:p.Met682Thr | |
| NM_001322010.1:c.1856T>C | NP_001308939.1:p.Met619Thr | |
| NM_001322011.1:c.1484T>C | NP_001308940.1:p.Met495Thr | |
| NM_001322012.1:c.1484T>C | NP_001308941.1:p.Met495Thr | |
| NM_001322013.1:c.1844T>C | NP_001308942.1:p.Met615Thr | |
| NM_001322014.1:c.2450T>C | NP_001308943.1:p.Met817Thr | |
| NM_001322015.1:c.2108T>C | NP_001308944.1:p.Met703Thr | |
| NR_136154.1:n.2461T>C | ||
| XM_006715744.4:c.1484T>C | XP_006715807.1:p.Met495Thr | |
| XM_017012342.2:c.1484T>C | XP_016867831.1:p.Met495Thr | |
| XM_024446800.1:c.1856T>C | XP_024302568.1:p.Met619Thr | |
| NM_000535.7:c.2417T>C MANE Select | NP_000526.2:p.Met806Thr | |
| NM_001322003.2:c.2012T>C | NP_001308932.1:p.Met671Thr | |
| NM_001322004.2:c.2012T>C | NP_001308933.1:p.Met671Thr | |
| NM_001322005.2:c.2012T>C | NP_001308934.1:p.Met671Thr | |
| NM_001322006.2:c.2261T>C | NP_001308935.1:p.Met754Thr | |
| NM_001322008.2:c.2099T>C | NP_001308937.1:p.Met700Thr | |
| NM_001322009.2:c.2045T>C | NP_001308938.1:p.Met682Thr | |
| NM_001322010.2:c.1856T>C | NP_001308939.1:p.Met619Thr | |
| NM_001322011.2:c.1484T>C | NP_001308940.1:p.Met495Thr | |
| NM_001322012.2:c.1484T>C | NP_001308941.1:p.Met495Thr | |
| NM_001322013.2:c.1844T>C | NP_001308942.1:p.Met615Thr | |
| NM_001322014.2:c.2450T>C | NP_001308943.1:p.Met817Thr | |
| NM_001322015.2:c.2108T>C | NP_001308944.1:p.Met703Thr | |
| NM_001322007.2:c.2099T>C | NP_001308936.1:p.Met700Thr |