Linked Data
ClinVar Variation Id:
468155
dbSNP Id:
rs1051758
ExAC:
16:2138486 C / G
gnomAD v2:
16-2138486-C-G
gnomAD v3:
16-2088485-C-G
gnomAD v4:
16-2088485-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088485C>G , CM000678.2:g.2088485C>G | GRCh38 |
| NC_000016.9:g.2138486C>G , CM000678.1:g.2138486C>G | GRCh37 |
| NC_000016.8:g.2078487C>G | NCBI36 |
| NG_005895.1:g.44180C>G , LRG_487:g.44180C>G | |
| NG_008617.1:g.54736G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3648C>G | ENSP00000455997.2:n.*3648C>G | |
| ENST00000642206.2:c.5146C>G | ENSP00000495146.2:p.Leu1716Val | |
| ENST00000642365.2:c.5296C>G | ENSP00000495459.2:p.Leu1766Val | |
| ENST00000644417.2:c.*5812C>G | ENSP00000493912.2:n.*5812C>G | |
| ENST00000646464.2:c.*8048C>G | ENSP00000496610.2:n.*8048C>G | |
| ENST00000219476.9:c.5299C>G MANE Select | ENSP00000219476.3:p.Leu1767Val | |
| ENST00000350773.9:c.5230C>G | ENSP00000344383.4:p.Leu1744Val | |
| ENST00000401874.7:c.5098C>G | ENSP00000384468.2:p.Leu1700Val | |
| ENST00000568454.6:c.5131C>G | ENSP00000454487.1:p.Leu1711Val | |
| ENST00000569110.2:c.1522C>G | ||
| ENST00000569930.2:n.3181C>G | ||
| ENST00000642365.1:c.3953C>G | ||
| ENST00000642561.1:c.5158C>G | ENSP00000495099.1:p.Leu1720Val | |
| ENST00000642791.1:n.896C>G | ||
| ENST00000642797.1:c.5101C>G | ENSP00000493846.1:p.Leu1701Val | |
| ENST00000642936.1:c.5167C>G | ENSP00000494514.1:p.Leu1723Val | |
| ENST00000643088.1:c.5092C>G | ENSP00000494747.1:p.Leu1698Val | |
| ENST00000643426.1:n.2947C>G | ||
| ENST00000643946.1:c.5224C>G | ENSP00000495927.1:p.Leu1742Val | |
| ENST00000644043.1:c.5170C>G | ENSP00000496262.1:p.Leu1724Val | |
| ENST00000644329.1:c.5185C>G | ENSP00000496611.1:p.Leu1729Val | |
| ENST00000644335.1:c.5095C>G | ENSP00000496317.1:p.Leu1699Val | |
| ENST00000644399.1:c.5220C>G | ||
| ENST00000645024.1:n.3383C>G | ||
| ENST00000646388.1:c.5293C>G | ENSP00000495921.1:p.Leu1765Val | |
| ENST00000646634.1:n.4114C>G | ||
| ENST00000646674.1:n.2551C>G | ||
| ENST00000647042.1:n.2522C>G | ||
| ENST00000647180.1:n.2412C>G | ||
| ENST00000219476.7:c.5299C>G | ENSP00000219476.3:p.Leu1767Val | |
| ENST00000350773.8:c.5230C>G | ENSP00000344383.4:p.Leu1744Val | |
| ENST00000382538.10:c.4954C>G | ENSP00000371978.6:p.Leu1652Val | |
| ENST00000401874.6:c.5098C>G | ENSP00000384468.2:p.Leu1700Val | |
| ENST00000439117.6:c.*4466C>G | ENSP00000406980.2:n.*4466C>G | |
| ENST00000439673.6:c.4990C>G | ENSP00000399232.2:p.Leu1664Val | |
| ENST00000497886.5:n.3022C>G | ||
| ENST00000568454.5:c.5131C>G | ENSP00000454487.1:p.Leu1711Val | |
| ENST00000569110.1:c.1481C>G | ||
| ENST00000569930.1:n.2414C>G | ||
| NM_000548.3:c.5299C>G , LRG_487t1:c.5299C>G | NP_000539.2:p.Leu1767Val | |
| NM_001077183.1:c.5098C>G | NP_001070651.1:p.Leu1700Val | |
| NM_001114382.1:c.5230C>G | NP_001107854.1:p.Leu1744Val | |
| XM_005255529.3:c.5170C>G | XP_005255586.2:p.Leu1724Val | |
| XM_005255531.3:c.5101C>G | XP_005255588.2:p.Leu1701Val | |
| XM_011522636.1:c.5353C>G | XP_011520938.1:p.Leu1785Val | |
| XM_011522637.1:c.5350C>G | XP_011520939.1:p.Leu1784Val | |
| XM_011522638.1:c.5242C>G | XP_011520940.1:p.Leu1748Val | |
| XM_011522639.1:c.5224C>G | XP_011520941.1:p.Leu1742Val | |
| XM_011522640.1:c.5221C>G | XP_011520942.1:p.Leu1741Val | |
| XM_011522641.1:c.4990C>G | XP_011520943.1:p.Leu1664Val | |
| NM_000548.4:c.5299C>G | NP_000539.2:p.Leu1767Val | |
| NM_001077183.2:c.5098C>G | NP_001070651.1:p.Leu1700Val | |
| NM_001114382.2:c.5230C>G | NP_001107854.1:p.Leu1744Val | |
| NM_001318827.1:c.4990C>G | NP_001305756.1:p.Leu1664Val | |
| NM_001318829.1:c.4954C>G | NP_001305758.1:p.Leu1652Val | |
| NM_001318831.1:c.4567C>G | NP_001305760.1:p.Leu1523Val | |
| NM_001318832.1:c.5131C>G | NP_001305761.1:p.Leu1711Val | |
| NM_001363528.1:c.5101C>G | NP_001350457.1:p.Leu1701Val | |
| NM_021055.2:c.5170C>G | NP_066399.2:p.Leu1724Val | |
| XM_005255531.4:c.5101C>G | XP_005255588.2:p.Leu1701Val | |
| XM_011522636.2:c.5353C>G | XP_011520938.1:p.Leu1785Val | |
| XM_011522637.2:c.5350C>G | XP_011520939.1:p.Leu1784Val | |
| XM_011522638.2:c.5515C>G | XP_011520940.2:p.Leu1839Val | |
| XM_011522639.2:c.5224C>G | XP_011520941.1:p.Leu1742Val | |
| XM_011522640.2:c.5221C>G | XP_011520942.1:p.Leu1741Val | |
| XM_017023615.1:c.5296C>G | XP_016879104.1:p.Leu1766Val | |
| XM_017023616.1:c.5167C>G | XP_016879105.1:p.Leu1723Val | |
| XM_017023617.1:c.5263C>G | XP_016879106.1:p.Leu1755Val | |
| XM_017023618.1:c.4009C>G | XP_016879107.1:p.Leu1337Val | |
| XM_024450413.1:c.5185C>G | XP_024306181.1:p.Leu1729Val | |
| NM_000548.5:c.5299C>G MANE Select | NP_000539.2:p.Leu1767Val | |
| NM_001370404.1:c.5167C>G | NP_001357333.1:p.Leu1723Val | |
| NM_001370405.1:c.5158C>G | NP_001357334.1:p.Leu1720Val | |
| NM_001077183.3:c.5098C>G | NP_001070651.1:p.Leu1700Val | |
| NM_001114382.3:c.5230C>G | NP_001107854.1:p.Leu1744Val | |
| NM_001318827.2:c.4990C>G | NP_001305756.1:p.Leu1664Val | |
| NM_001318829.2:c.4954C>G | NP_001305758.1:p.Leu1652Val | |
| NM_001318831.2:c.4567C>G | NP_001305760.1:p.Leu1523Val | |
| NM_001318832.2:c.5131C>G | NP_001305761.1:p.Leu1711Val | |
| NM_001363528.2:c.5101C>G | NP_001350457.1:p.Leu1701Val | |
| NM_021055.3:c.5170C>G | NP_066399.2:p.Leu1724Val |