Linked Data
ClinVar Variation Id:
318337
dbSNP Id:
rs886051798
gnomAD v3:
16-2088487-G-C
gnomAD v4:
16-2088487-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088487G>C , CM000678.2:g.2088487G>C | GRCh38 |
| NC_000016.9:g.2138488G>C , CM000678.1:g.2138488G>C | GRCh37 |
| NC_000016.8:g.2078489G>C | NCBI36 |
| NG_005895.1:g.44182G>C , LRG_487:g.44182G>C | |
| NG_008617.1:g.54734C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3650G>C | ENSP00000455997.2:n.*3650G>C | |
| ENST00000642206.2:c.5148G>C | ENSP00000495146.2:p.Leu1716= | |
| ENST00000642365.2:c.5298G>C | ENSP00000495459.2:p.Leu1766= | |
| ENST00000644417.2:c.*5814G>C | ENSP00000493912.2:n.*5814G>C | |
| ENST00000646464.2:c.*8050G>C | ENSP00000496610.2:n.*8050G>C | |
| ENST00000219476.9:c.5301G>C MANE Select | ENSP00000219476.3:p.Leu1767= | |
| ENST00000350773.9:c.5232G>C | ENSP00000344383.4:p.Leu1744= | |
| ENST00000401874.7:c.5100G>C | ENSP00000384468.2:p.Leu1700= | |
| ENST00000568454.6:c.5133G>C | ENSP00000454487.1:p.Leu1711= | |
| ENST00000569110.2:c.1524G>C | ||
| ENST00000569930.2:n.3183G>C | ||
| ENST00000642365.1:c.3955G>C | ||
| ENST00000642561.1:c.5160G>C | ENSP00000495099.1:p.Leu1720= | |
| ENST00000642791.1:n.898G>C | ||
| ENST00000642797.1:c.5103G>C | ENSP00000493846.1:p.Leu1701= | |
| ENST00000642936.1:c.5169G>C | ENSP00000494514.1:p.Leu1723= | |
| ENST00000643088.1:c.5094G>C | ENSP00000494747.1:p.Leu1698= | |
| ENST00000643426.1:n.2949G>C | ||
| ENST00000643946.1:c.5226G>C | ENSP00000495927.1:p.Leu1742= | |
| ENST00000644043.1:c.5172G>C | ENSP00000496262.1:p.Leu1724= | |
| ENST00000644329.1:c.5187G>C | ENSP00000496611.1:p.Leu1729= | |
| ENST00000644335.1:c.5097G>C | ENSP00000496317.1:p.Leu1699= | |
| ENST00000644399.1:c.5222G>C | ||
| ENST00000645024.1:n.3385G>C | ||
| ENST00000646388.1:c.5295G>C | ENSP00000495921.1:p.Leu1765= | |
| ENST00000646634.1:n.4116G>C | ||
| ENST00000646674.1:n.2553G>C | ||
| ENST00000647042.1:n.2524G>C | ||
| ENST00000647180.1:n.2414G>C | ||
| ENST00000219476.7:c.5301G>C | ENSP00000219476.3:p.Leu1767= | |
| ENST00000350773.8:c.5232G>C | ENSP00000344383.4:p.Leu1744= | |
| ENST00000382538.10:c.4956G>C | ENSP00000371978.6:p.Leu1652= | |
| ENST00000401874.6:c.5100G>C | ENSP00000384468.2:p.Leu1700= | |
| ENST00000439117.6:c.*4468G>C | ENSP00000406980.2:n.*4468G>C | |
| ENST00000439673.6:c.4992G>C | ENSP00000399232.2:p.Leu1664= | |
| ENST00000497886.5:n.3024G>C | ||
| ENST00000568454.5:c.5133G>C | ENSP00000454487.1:p.Leu1711= | |
| ENST00000569110.1:c.1483G>C | ||
| ENST00000569930.1:n.2416G>C | ||
| NM_000548.3:c.5301G>C , LRG_487t1:c.5301G>C | NP_000539.2:p.Leu1767= | |
| NM_001077183.1:c.5100G>C | NP_001070651.1:p.Leu1700= | |
| NM_001114382.1:c.5232G>C | NP_001107854.1:p.Leu1744= | |
| XM_005255529.3:c.5172G>C | XP_005255586.2:p.Leu1724= | |
| XM_005255531.3:c.5103G>C | XP_005255588.2:p.Leu1701= | |
| XM_011522636.1:c.5355G>C | XP_011520938.1:p.Leu1785= | |
| XM_011522637.1:c.5352G>C | XP_011520939.1:p.Leu1784= | |
| XM_011522638.1:c.5244G>C | XP_011520940.1:p.Leu1748= | |
| XM_011522639.1:c.5226G>C | XP_011520941.1:p.Leu1742= | |
| XM_011522640.1:c.5223G>C | XP_011520942.1:p.Leu1741= | |
| XM_011522641.1:c.4992G>C | XP_011520943.1:p.Leu1664= | |
| NM_000548.4:c.5301G>C | NP_000539.2:p.Leu1767= | |
| NM_001077183.2:c.5100G>C | NP_001070651.1:p.Leu1700= | |
| NM_001114382.2:c.5232G>C | NP_001107854.1:p.Leu1744= | |
| NM_001318827.1:c.4992G>C | NP_001305756.1:p.Leu1664= | |
| NM_001318829.1:c.4956G>C | NP_001305758.1:p.Leu1652= | |
| NM_001318831.1:c.4569G>C | NP_001305760.1:p.Leu1523= | |
| NM_001318832.1:c.5133G>C | NP_001305761.1:p.Leu1711= | |
| NM_001363528.1:c.5103G>C | NP_001350457.1:p.Leu1701= | |
| NM_021055.2:c.5172G>C | NP_066399.2:p.Leu1724= | |
| XM_005255531.4:c.5103G>C | XP_005255588.2:p.Leu1701= | |
| XM_011522636.2:c.5355G>C | XP_011520938.1:p.Leu1785= | |
| XM_011522637.2:c.5352G>C | XP_011520939.1:p.Leu1784= | |
| XM_011522638.2:c.5517G>C | XP_011520940.2:p.Leu1839= | |
| XM_011522639.2:c.5226G>C | XP_011520941.1:p.Leu1742= | |
| XM_011522640.2:c.5223G>C | XP_011520942.1:p.Leu1741= | |
| XM_017023615.1:c.5298G>C | XP_016879104.1:p.Leu1766= | |
| XM_017023616.1:c.5169G>C | XP_016879105.1:p.Leu1723= | |
| XM_017023617.1:c.5265G>C | XP_016879106.1:p.Leu1755= | |
| XM_017023618.1:c.4011G>C | XP_016879107.1:p.Leu1337= | |
| XM_024450413.1:c.5187G>C | XP_024306181.1:p.Leu1729= | |
| NM_000548.5:c.5301G>C MANE Select | NP_000539.2:p.Leu1767= | |
| NM_001370404.1:c.5169G>C | NP_001357333.1:p.Leu1723= | |
| NM_001370405.1:c.5160G>C | NP_001357334.1:p.Leu1720= | |
| NM_001077183.3:c.5100G>C | NP_001070651.1:p.Leu1700= | |
| NM_001114382.3:c.5232G>C | NP_001107854.1:p.Leu1744= | |
| NM_001318827.2:c.4992G>C | NP_001305756.1:p.Leu1664= | |
| NM_001318829.2:c.4956G>C | NP_001305758.1:p.Leu1652= | |
| NM_001318831.2:c.4569G>C | NP_001305760.1:p.Leu1523= | |
| NM_001318832.2:c.5133G>C | NP_001305761.1:p.Leu1711= | |
| NM_001363528.2:c.5103G>C | NP_001350457.1:p.Leu1701= | |
| NM_021055.3:c.5172G>C | NP_066399.2:p.Leu1724= |