Linked Data
ClinVar Variation Id:
138703
ClinVar RCV Id:
RCV000127465
RCV000162439
RCV000197459
RCV000590780
RCV000662897
RCV001079494
RCV001355979
RCV001798426
dbSNP Id:
rs373630535
ExAC:
7:6018315 G / C
gnomAD v2:
7-6018315-G-C
gnomAD v3:
7-5978684-G-C
gnomAD v4:
7-5978684-G-C
PubMed:
PMID:20205264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5978684G>C , CM000669.2:g.5978684G>C | GRCh38 |
| NC_000007.13:g.6018315G>C , CM000669.1:g.6018315G>C | GRCh37 |
| NC_000007.12:g.5984841G>C | NCBI36 |
| NG_008466.1:g.35423C>G , LRG_161:g.35423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1583C>G | ENSP00000514615.2:n.*1583C>G | |
| ENST00000699840.2:c.2184C>G | ENSP00000514638.2:p.Leu728= | |
| ENST00000699930.2:c.2079C>G | ENSP00000514695.2:p.Leu693= | |
| ENST00000406569.8:c.1679-970C>G | ENSP00000514464.1:n.1679-970C>G | |
| ENST00000644110.2:c.*1781C>G | ENSP00000496392.2:n.*1781C>G | |
| ENST00000699752.1:c.2031C>G | ENSP00000514561.1:p.Leu677= | |
| ENST00000699753.1:c.*1608C>G | ENSP00000514562.1:n.*1608C>G | |
| ENST00000699754.1:c.1989C>G | ENSP00000514563.1:p.Leu663= | |
| ENST00000699755.1:c.*1586C>G | ENSP00000514564.1:n.*1586C>G | |
| ENST00000699756.1:c.*1774C>G | ENSP00000514565.1:n.*1774C>G | |
| ENST00000699757.1:c.*1444C>G | ENSP00000514566.1:n.*1444C>G | |
| ENST00000699758.1:c.*1444C>G | ENSP00000514567.1:n.*1444C>G | |
| ENST00000699759.1:n.3041C>G | ||
| ENST00000699760.1:c.1869C>G | ENSP00000514568.1:p.Leu623= | |
| ENST00000699761.1:c.1782C>G | ENSP00000514569.1:p.Leu594= | |
| ENST00000699762.1:c.1614C>G | ENSP00000514570.1:p.Leu538= | |
| ENST00000699763.1:c.*1277C>G | ENSP00000514571.1:n.*1277C>G | |
| ENST00000699764.1:c.*505C>G | ENSP00000514572.1:n.*505C>G | |
| ENST00000699765.1:c.*1271-927C>G | ENSP00000514573.1:n.*1271-927C>G | |
| ENST00000699766.1:c.2187C>G | ENSP00000514574.1:p.Leu729= | |
| ENST00000699767.1:c.2187C>G | ENSP00000514575.1:p.Leu729= | |
| ENST00000699768.1:c.2175-970C>G | ENSP00000514576.1:n.2175-970C>G | |
| ENST00000699811.1:c.1782C>G | ENSP00000514614.1:p.Leu594= | |
| ENST00000699813.1:n.2300C>G | ||
| ENST00000699814.1:c.1810C>G | ||
| ENST00000699815.1:c.*1718C>G | ENSP00000514616.1:n.*1718C>G | |
| ENST00000699816.1:c.*1077C>G | ENSP00000514617.1:n.*1077C>G | |
| ENST00000699817.1:c.*1781C>G | ENSP00000514618.1:n.*1781C>G | |
| ENST00000699818.1:c.1782C>G | ENSP00000514619.1:p.Leu594= | |
| ENST00000699819.1:c.*1344C>G | ENSP00000514620.1:n.*1344C>G | |
| ENST00000699820.1:c.*125C>G | ENSP00000514621.1:n.*125C>G | |
| ENST00000699821.1:c.1782C>G | ENSP00000514622.1:p.Leu594= | |
| ENST00000699822.1:c.*1639C>G | ENSP00000514623.1:n.*1639C>G | |
| ENST00000699823.1:c.1782C>G | ENSP00000514624.1:p.Leu594= | |
| ENST00000699824.1:c.*1690C>G | ENSP00000514625.1:n.*1690C>G | |
| ENST00000699825.1:c.1626C>G | ENSP00000514626.1:p.Leu542= | |
| ENST00000699826.1:c.*1586C>G | ENSP00000514627.1:n.*1586C>G | |
| ENST00000699827.1:c.2019C>G | ENSP00000514628.1:p.Leu673= | |
| ENST00000699828.1:c.*1277C>G | ENSP00000514629.1:n.*1277C>G | |
| ENST00000699833.1:n.3959C>G | ||
| ENST00000699837.1:c.1782C>G | ENSP00000514635.1:p.Leu594= | |
| ENST00000699838.1:c.*2087C>G | ENSP00000514636.1:n.*2087C>G | |
| ENST00000699839.1:c.2373C>G | ENSP00000514637.1:p.Leu791= | |
| ENST00000699916.1:c.*1444C>G | ENSP00000514684.1:n.*1444C>G | |
| ENST00000699917.1:c.*1636C>G | ENSP00000514685.1:n.*1636C>G | |
| ENST00000699918.1:c.*1688C>G | ENSP00000514686.1:n.*1688C>G | |
| ENST00000699919.1:c.*1774C>G | ENSP00000514687.1:n.*1774C>G | |
| ENST00000699920.1:c.*1823C>G | ENSP00000514688.1:n.*1823C>G | |
| ENST00000699928.1:c.*125C>G | ENSP00000514693.1:n.*125C>G | |
| ENST00000699951.1:c.*1283C>G | ENSP00000514706.1:n.*1283C>G | |
| ENST00000699952.1:c.804-5142C>G | ENSP00000514707.1:n.804-5142C>G | |
| ENST00000265849.12:c.2187C>G MANE Select | ENSP00000265849.7:p.Leu729= | |
| ENST00000642292.1:c.1782C>G | ENSP00000495524.1:p.Leu594= | |
| ENST00000642456.1:c.1782C>G | ENSP00000493814.1:p.Leu594= | |
| ENST00000643595.1:c.*1586C>G | ENSP00000494497.1:n.*1586C>G | |
| ENST00000644110.1:c.1869C>G | ENSP00000496392.1:p.Leu623= | |
| ENST00000265849.11:c.2187C>G | ENSP00000265849.7:p.Leu729= | |
| ENST00000382321.5:c.984C>G | ENSP00000371758.4:p.Leu328= | |
| ENST00000406569.7:n.1679-970C>G | ||
| ENST00000441476.6:c.1869C>G | ENSP00000392843.2:p.Leu623= | |
| NM_000535.5:c.2187C>G , LRG_161t1:c.2187C>G | NP_000526.1:p.Leu729= | |
| NR_003085.2:n.2269C>G | ||
| XM_006715742.2:c.2181C>G | XP_006715805.1:p.Leu727= | |
| XM_006715744.2:c.1254C>G | XP_006715807.1:p.Leu418= | |
| XM_011515427.1:c.2232C>G | XP_011513729.1:p.Leu744= | |
| XM_011515428.1:c.2076C>G | XP_011513730.1:p.Leu692= | |
| XM_011515429.1:c.1869C>G | XP_011513731.1:p.Leu623= | |
| XM_011515430.1:c.1869C>G | XP_011513732.1:p.Leu623= | |
| NM_000535.6:c.2187C>G | NP_000526.2:p.Leu729= | |
| NM_001322003.1:c.1782C>G | NP_001308932.1:p.Leu594= | |
| NM_001322004.1:c.1782C>G | NP_001308933.1:p.Leu594= | |
| NM_001322005.1:c.1782C>G | NP_001308934.1:p.Leu594= | |
| NM_001322006.1:c.2031C>G | NP_001308935.1:p.Leu677= | |
| NM_001322007.1:c.1869C>G | NP_001308936.1:p.Leu623= | |
| NM_001322008.1:c.1869C>G | NP_001308937.1:p.Leu623= | |
| NM_001322009.1:c.1782C>G | NP_001308938.1:p.Leu594= | |
| NM_001322010.1:c.1626C>G | NP_001308939.1:p.Leu542= | |
| NM_001322011.1:c.1254C>G | NP_001308940.1:p.Leu418= | |
| NM_001322012.1:c.1254C>G | NP_001308941.1:p.Leu418= | |
| NM_001322013.1:c.1614C>G | NP_001308942.1:p.Leu538= | |
| NM_001322014.1:c.2187C>G | NP_001308943.1:p.Leu729= | |
| NM_001322015.1:c.1878C>G | NP_001308944.1:p.Leu626= | |
| NR_136154.1:n.2274C>G | ||
| XM_006715744.4:c.1254C>G | XP_006715807.1:p.Leu418= | |
| XM_017012342.2:c.1254C>G | XP_016867831.1:p.Leu418= | |
| XM_024446800.1:c.1626C>G | XP_024302568.1:p.Leu542= | |
| NM_000535.7:c.2187C>G MANE Select | NP_000526.2:p.Leu729= | |
| NM_001322003.2:c.1782C>G | NP_001308932.1:p.Leu594= | |
| NM_001322004.2:c.1782C>G | NP_001308933.1:p.Leu594= | |
| NM_001322005.2:c.1782C>G | NP_001308934.1:p.Leu594= | |
| NM_001322006.2:c.2031C>G | NP_001308935.1:p.Leu677= | |
| NM_001322008.2:c.1869C>G | NP_001308937.1:p.Leu623= | |
| NM_001322009.2:c.1782C>G | NP_001308938.1:p.Leu594= | |
| NM_001322010.2:c.1626C>G | NP_001308939.1:p.Leu542= | |
| NM_001322011.2:c.1254C>G | NP_001308940.1:p.Leu418= | |
| NM_001322012.2:c.1254C>G | NP_001308941.1:p.Leu418= | |
| NM_001322013.2:c.1614C>G | NP_001308942.1:p.Leu538= | |
| NM_001322014.2:c.2187C>G | NP_001308943.1:p.Leu729= | |
| NM_001322015.2:c.1878C>G | NP_001308944.1:p.Leu626= | |
| NM_001322007.2:c.1869C>G | NP_001308936.1:p.Leu623= |