Linked Data
ClinVar Variation Id:
1791048
ClinVar RCV Id:
RCV002450417
dbSNP Id:
rs1781819591
gnomAD v3:
7-5977610-G-A
gnomAD v4:
7-5977610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977610G>A , CM000669.2:g.5977610G>A | GRCh38 |
| NC_000007.13:g.6017241G>A , CM000669.1:g.6017241G>A | GRCh37 |
| NC_000007.12:g.5983767G>A | NCBI36 |
| NG_008466.1:g.36497C>T , LRG_161:g.36497C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1819C>T | ENSP00000514615.2:n.*1819C>T | |
| ENST00000699840.2:c.2420C>T | ENSP00000514638.2:p.Ala807Val | |
| ENST00000699930.2:c.2315C>T | ENSP00000514695.2:p.Ala772Val | |
| ENST00000406569.8:c.1783C>T | ENSP00000514464.1:n.1783C>T | |
| ENST00000644110.2:c.*2017C>T | ENSP00000496392.2:n.*2017C>T | |
| ENST00000699752.1:c.2267C>T | ENSP00000514561.1:p.Ala756Val | |
| ENST00000699753.1:c.*1844C>T | ENSP00000514562.1:n.*1844C>T | |
| ENST00000699754.1:c.2225C>T | ENSP00000514563.1:p.Ala742Val | |
| ENST00000699755.1:c.*1822C>T | ENSP00000514564.1:n.*1822C>T | |
| ENST00000699756.1:c.*2010C>T | ENSP00000514565.1:n.*2010C>T | |
| ENST00000699757.1:c.*1680C>T | ENSP00000514566.1:n.*1680C>T | |
| ENST00000699758.1:c.*1680C>T | ENSP00000514567.1:n.*1680C>T | |
| ENST00000699759.1:n.3277C>T | ||
| ENST00000699760.1:c.2105C>T | ENSP00000514568.1:p.Ala702Val | |
| ENST00000699761.1:c.2018C>T | ENSP00000514569.1:p.Ala673Val | |
| ENST00000699762.1:c.1850C>T | ENSP00000514570.1:p.Ala617Val | |
| ENST00000699763.1:c.*1513C>T | ENSP00000514571.1:n.*1513C>T | |
| ENST00000699764.1:c.*741C>T | ENSP00000514572.1:n.*741C>T | |
| ENST00000699765.1:c.*1418C>T | ENSP00000514573.1:n.*1418C>T | |
| ENST00000699766.1:c.2456C>T | ENSP00000514574.1:p.Ala819Val | |
| ENST00000699767.1:c.*64C>T | ENSP00000514575.1:n.*64C>T | |
| ENST00000699768.1:c.2279C>T | ENSP00000514576.1:p.Ala760Val | |
| ENST00000699811.1:c.2018C>T | ENSP00000514614.1:p.Ala673Val | |
| ENST00000699813.1:n.2536C>T | ||
| ENST00000699814.1:c.2046C>T | ||
| ENST00000699815.1:c.*1954C>T | ENSP00000514616.1:n.*1954C>T | |
| ENST00000699816.1:c.*1313C>T | ENSP00000514617.1:n.*1313C>T | |
| ENST00000699817.1:c.*2017C>T | ENSP00000514618.1:n.*2017C>T | |
| ENST00000699818.1:c.2018C>T | ENSP00000514619.1:p.Ala673Val | |
| ENST00000699819.1:c.*1580C>T | ENSP00000514620.1:n.*1580C>T | |
| ENST00000699820.1:c.*361C>T | ENSP00000514621.1:n.*361C>T | |
| ENST00000699821.1:c.2051C>T | ENSP00000514622.1:p.Ala684Val | |
| ENST00000699822.1:c.*1875C>T | ENSP00000514623.1:n.*1875C>T | |
| ENST00000699823.1:c.2018C>T | ENSP00000514624.1:p.Ala673Val | |
| ENST00000699824.1:c.*1926C>T | ENSP00000514625.1:n.*1926C>T | |
| ENST00000699825.1:c.1862C>T | ENSP00000514626.1:p.Ala621Val | |
| ENST00000699826.1:c.*1822C>T | ENSP00000514627.1:n.*1822C>T | |
| ENST00000699827.1:c.2255C>T | ENSP00000514628.1:p.Ala752Val | |
| ENST00000699828.1:c.*1513C>T | ENSP00000514629.1:n.*1513C>T | |
| ENST00000699833.1:n.4195C>T | ||
| ENST00000699837.1:c.2018C>T | ENSP00000514635.1:p.Ala673Val | |
| ENST00000699838.1:c.*2323C>T | ENSP00000514636.1:n.*2323C>T | |
| ENST00000699839.1:c.2609C>T | ENSP00000514637.1:p.Ala870Val | |
| ENST00000699916.1:c.*1680C>T | ENSP00000514684.1:n.*1680C>T | |
| ENST00000699917.1:c.*1872C>T | ENSP00000514685.1:n.*1872C>T | |
| ENST00000699918.1:c.*1924C>T | ENSP00000514686.1:n.*1924C>T | |
| ENST00000699919.1:c.*2010C>T | ENSP00000514687.1:n.*2010C>T | |
| ENST00000699920.1:c.*2059C>T | ENSP00000514688.1:n.*2059C>T | |
| ENST00000699928.1:c.*361C>T | ENSP00000514693.1:n.*361C>T | |
| ENST00000699951.1:c.*1476C>T | ENSP00000514706.1:n.*1476C>T | |
| ENST00000699952.1:c.804-4068C>T | ENSP00000514707.1:n.804-4068C>T | |
| ENST00000265849.12:c.2423C>T MANE Select | ENSP00000265849.7:p.Ala808Val | |
| ENST00000642292.1:c.2018C>T | ENSP00000495524.1:p.Ala673Val | |
| ENST00000642456.1:c.2018C>T | ENSP00000493814.1:p.Ala673Val | |
| ENST00000643595.1:c.*1822C>T | ENSP00000494497.1:n.*1822C>T | |
| ENST00000644110.1:c.2105C>T | ENSP00000496392.1:p.Ala702Val | |
| ENST00000265849.11:c.2423C>T | ENSP00000265849.7:p.Ala808Val | |
| ENST00000382321.5:c.1220C>T | ENSP00000371758.4:p.Ala407Val | |
| ENST00000441476.6:c.2105C>T | ENSP00000392843.2:p.Ala702Val | |
| NM_000535.5:c.2423C>T , LRG_161t1:c.2423C>T | NP_000526.1:p.Ala808Val | |
| NR_003085.2:n.2505C>T | ||
| XM_006715742.2:c.2417C>T | XP_006715805.1:p.Ala806Val | |
| XM_006715744.2:c.1490C>T | XP_006715807.1:p.Ala497Val | |
| XM_011515427.1:c.2468C>T | XP_011513729.1:p.Ala823Val | |
| XM_011515428.1:c.2312C>T | XP_011513730.1:p.Ala771Val | |
| XM_011515429.1:c.2105C>T | XP_011513731.1:p.Ala702Val | |
| XM_011515430.1:c.2105C>T | XP_011513732.1:p.Ala702Val | |
| NM_000535.6:c.2423C>T | NP_000526.2:p.Ala808Val | |
| NM_001322003.1:c.2018C>T | NP_001308932.1:p.Ala673Val | |
| NM_001322004.1:c.2018C>T | NP_001308933.1:p.Ala673Val | |
| NM_001322005.1:c.2018C>T | NP_001308934.1:p.Ala673Val | |
| NM_001322006.1:c.2267C>T | NP_001308935.1:p.Ala756Val | |
| NM_001322007.1:c.2105C>T | NP_001308936.1:p.Ala702Val | |
| NM_001322008.1:c.2105C>T | NP_001308937.1:p.Ala702Val | |
| NM_001322009.1:c.2051C>T | NP_001308938.1:p.Ala684Val | |
| NM_001322010.1:c.1862C>T | NP_001308939.1:p.Ala621Val | |
| NM_001322011.1:c.1490C>T | NP_001308940.1:p.Ala497Val | |
| NM_001322012.1:c.1490C>T | NP_001308941.1:p.Ala497Val | |
| NM_001322013.1:c.1850C>T | NP_001308942.1:p.Ala617Val | |
| NM_001322014.1:c.2456C>T | NP_001308943.1:p.Ala819Val | |
| NM_001322015.1:c.2114C>T | NP_001308944.1:p.Ala705Val | |
| NR_136154.1:n.2467C>T | ||
| XM_006715744.4:c.1490C>T | XP_006715807.1:p.Ala497Val | |
| XM_017012342.2:c.1490C>T | XP_016867831.1:p.Ala497Val | |
| XM_024446800.1:c.1862C>T | XP_024302568.1:p.Ala621Val | |
| NM_000535.7:c.2423C>T MANE Select | NP_000526.2:p.Ala808Val | |
| NM_001322003.2:c.2018C>T | NP_001308932.1:p.Ala673Val | |
| NM_001322004.2:c.2018C>T | NP_001308933.1:p.Ala673Val | |
| NM_001322005.2:c.2018C>T | NP_001308934.1:p.Ala673Val | |
| NM_001322006.2:c.2267C>T | NP_001308935.1:p.Ala756Val | |
| NM_001322008.2:c.2105C>T | NP_001308937.1:p.Ala702Val | |
| NM_001322009.2:c.2051C>T | NP_001308938.1:p.Ala684Val | |
| NM_001322010.2:c.1862C>T | NP_001308939.1:p.Ala621Val | |
| NM_001322011.2:c.1490C>T | NP_001308940.1:p.Ala497Val | |
| NM_001322012.2:c.1490C>T | NP_001308941.1:p.Ala497Val | |
| NM_001322013.2:c.1850C>T | NP_001308942.1:p.Ala617Val | |
| NM_001322014.2:c.2456C>T | NP_001308943.1:p.Ala819Val | |
| NM_001322015.2:c.2114C>T | NP_001308944.1:p.Ala705Val | |
| NM_001322007.2:c.2105C>T | NP_001308936.1:p.Ala702Val |