Linked Data
ClinVar Variation Id:
41747
dbSNP Id:
rs200140994
ExAC:
16:2138555 G / A
gnomAD v2:
16-2138555-G-A
gnomAD v3:
16-2088554-G-A
gnomAD v4:
16-2088554-G-A
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088554G>A , CM000678.2:g.2088554G>A | GRCh38 |
| NC_000016.9:g.2138555G>A , CM000678.1:g.2138555G>A | GRCh37 |
| NC_000016.8:g.2078556G>A | NCBI36 |
| NG_005895.1:g.44249G>A , LRG_487:g.44249G>A | |
| NG_008617.1:g.54667C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3717G>A | ENSP00000455997.2:n.*3717G>A | |
| ENST00000642206.2:c.5215G>A | ENSP00000495146.2:p.Val1739Met | |
| ENST00000642365.2:c.5365G>A | ENSP00000495459.2:p.Val1789Met | |
| ENST00000644417.2:c.*5881G>A | ENSP00000493912.2:n.*5881G>A | |
| ENST00000646464.2:c.*8117G>A | ENSP00000496610.2:n.*8117G>A | |
| ENST00000219476.9:c.5368G>A MANE Select | ENSP00000219476.3:p.Val1790Met | |
| ENST00000350773.9:c.5299G>A | ENSP00000344383.4:p.Val1767Met | |
| ENST00000401874.7:c.5167G>A | ENSP00000384468.2:p.Val1723Met | |
| ENST00000568454.6:c.5200G>A | ENSP00000454487.1:p.Val1734Met | |
| ENST00000569110.2:c.1591G>A | ||
| ENST00000569930.2:n.3250G>A | ||
| ENST00000642365.1:c.4022G>A | ||
| ENST00000642561.1:c.5227G>A | ENSP00000495099.1:p.Val1743Met | |
| ENST00000642791.1:n.965G>A | ||
| ENST00000642797.1:c.5170G>A | ENSP00000493846.1:p.Val1724Met | |
| ENST00000642936.1:c.5236G>A | ENSP00000494514.1:p.Val1746Met | |
| ENST00000643088.1:c.5161G>A | ENSP00000494747.1:p.Val1721Met | |
| ENST00000643426.1:n.3016G>A | ||
| ENST00000643946.1:c.5293G>A | ENSP00000495927.1:p.Val1765Met | |
| ENST00000644043.1:c.5239G>A | ENSP00000496262.1:p.Val1747Met | |
| ENST00000644329.1:c.5254G>A | ENSP00000496611.1:p.Val1752Met | |
| ENST00000644335.1:c.5164G>A | ENSP00000496317.1:p.Val1722Met | |
| ENST00000644399.1:c.5289G>A | ||
| ENST00000645024.1:n.3452G>A | ||
| ENST00000646388.1:c.5362G>A | ENSP00000495921.1:p.Val1788Met | |
| ENST00000646634.1:n.4183G>A | ||
| ENST00000646674.1:n.2620G>A | ||
| ENST00000647042.1:n.2591G>A | ||
| ENST00000647180.1:n.2481G>A | ||
| ENST00000219476.7:c.5368G>A | ENSP00000219476.3:p.Val1790Met | |
| ENST00000350773.8:c.5299G>A | ENSP00000344383.4:p.Val1767Met | |
| ENST00000382538.10:c.5023G>A | ENSP00000371978.6:p.Val1675Met | |
| ENST00000401874.6:c.5167G>A | ENSP00000384468.2:p.Val1723Met | |
| ENST00000439117.6:c.*4535G>A | ENSP00000406980.2:n.*4535G>A | |
| ENST00000439673.6:c.5059G>A | ENSP00000399232.2:p.Val1687Met | |
| ENST00000497886.5:n.3091G>A | ||
| ENST00000568454.5:c.5200G>A | ENSP00000454487.1:p.Val1734Met | |
| ENST00000569110.1:c.1550G>A | ||
| ENST00000569930.1:n.2483G>A | ||
| NM_000548.3:c.5368G>A , LRG_487t1:c.5368G>A | NP_000539.2:p.Val1790Met | |
| NM_001077183.1:c.5167G>A | NP_001070651.1:p.Val1723Met | |
| NM_001114382.1:c.5299G>A | NP_001107854.1:p.Val1767Met | |
| XM_005255529.3:c.5239G>A | XP_005255586.2:p.Val1747Met | |
| XM_005255531.3:c.5170G>A | XP_005255588.2:p.Val1724Met | |
| XM_011522636.1:c.5422G>A | XP_011520938.1:p.Val1808Met | |
| XM_011522637.1:c.5419G>A | XP_011520939.1:p.Val1807Met | |
| XM_011522638.1:c.5311G>A | XP_011520940.1:p.Val1771Met | |
| XM_011522639.1:c.5293G>A | XP_011520941.1:p.Val1765Met | |
| XM_011522640.1:c.5290G>A | XP_011520942.1:p.Val1764Met | |
| XM_011522641.1:c.5059G>A | XP_011520943.1:p.Val1687Met | |
| NM_000548.4:c.5368G>A | NP_000539.2:p.Val1790Met | |
| NM_001077183.2:c.5167G>A | NP_001070651.1:p.Val1723Met | |
| NM_001114382.2:c.5299G>A | NP_001107854.1:p.Val1767Met | |
| NM_001318827.1:c.5059G>A | NP_001305756.1:p.Val1687Met | |
| NM_001318829.1:c.5023G>A | NP_001305758.1:p.Val1675Met | |
| NM_001318831.1:c.4636G>A | NP_001305760.1:p.Val1546Met | |
| NM_001318832.1:c.5200G>A | NP_001305761.1:p.Val1734Met | |
| NM_001363528.1:c.5170G>A | NP_001350457.1:p.Val1724Met | |
| NM_021055.2:c.5239G>A | NP_066399.2:p.Val1747Met | |
| XM_005255531.4:c.5170G>A | XP_005255588.2:p.Val1724Met | |
| XM_011522636.2:c.5422G>A | XP_011520938.1:p.Val1808Met | |
| XM_011522637.2:c.5419G>A | XP_011520939.1:p.Val1807Met | |
| XM_011522638.2:c.5584G>A | XP_011520940.2:p.Val1862Met | |
| XM_011522639.2:c.5293G>A | XP_011520941.1:p.Val1765Met | |
| XM_011522640.2:c.5290G>A | XP_011520942.1:p.Val1764Met | |
| XM_017023615.1:c.5365G>A | XP_016879104.1:p.Val1789Met | |
| XM_017023616.1:c.5236G>A | XP_016879105.1:p.Val1746Met | |
| XM_017023617.1:c.5332G>A | XP_016879106.1:p.Val1778Met | |
| XM_017023618.1:c.4078G>A | XP_016879107.1:p.Val1360Met | |
| XM_024450413.1:c.5254G>A | XP_024306181.1:p.Val1752Met | |
| NM_000548.5:c.5368G>A MANE Select | NP_000539.2:p.Val1790Met | |
| NM_001370404.1:c.5236G>A | NP_001357333.1:p.Val1746Met | |
| NM_001370405.1:c.5227G>A | NP_001357334.1:p.Val1743Met | |
| NM_001077183.3:c.5167G>A | NP_001070651.1:p.Val1723Met | |
| NM_001114382.3:c.5299G>A | NP_001107854.1:p.Val1767Met | |
| NM_001318827.2:c.5059G>A | NP_001305756.1:p.Val1687Met | |
| NM_001318829.2:c.5023G>A | NP_001305758.1:p.Val1675Met | |
| NM_001318831.2:c.4636G>A | NP_001305760.1:p.Val1546Met | |
| NM_001318832.2:c.5200G>A | NP_001305761.1:p.Val1734Met | |
| NM_001363528.2:c.5170G>A | NP_001350457.1:p.Val1724Met | |
| NM_021055.3:c.5239G>A | NP_066399.2:p.Val1747Met |