Linked Data
ClinVar Variation Id:
486673
dbSNP Id:
rs764113584
ExAC:
16:2129590 A / T
gnomAD v2:
16-2129590-A-T
gnomAD v3:
16-2079589-A-T
gnomAD v4:
16-2079589-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2079589A>T , CM000678.2:g.2079589A>T | GRCh38 |
| NC_000016.9:g.2129590A>T , CM000678.1:g.2129590A>T | GRCh37 |
| NC_000016.8:g.2069591A>T | NCBI36 |
| NG_005895.1:g.35284A>T , LRG_487:g.35284A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*1735A>T | ENSP00000455997.2:n.*1735A>T | |
| ENST00000642206.2:c.3233A>T | ENSP00000495146.2:p.Lys1078Met | |
| ENST00000642365.2:c.3314A>T | ENSP00000495459.2:p.Lys1105Met | |
| ENST00000644417.2:c.*3766A>T | ENSP00000493912.2:n.*3766A>T | |
| ENST00000646464.2:c.*4239A>T | ENSP00000496610.2:n.*4239A>T | |
| ENST00000219476.9:c.3317A>T MANE Select | ENSP00000219476.3:p.Lys1106Met | |
| ENST00000350773.9:c.3317A>T | ENSP00000344383.4:p.Lys1106Met | |
| ENST00000401874.7:c.3185A>T | ENSP00000384468.2:p.Lys1062Met | |
| ENST00000471143.6:c.545A>T | ENSP00000458541.2:n.545A>T | |
| ENST00000568454.6:c.3218A>T | ENSP00000454487.1:p.Lys1073Met | |
| ENST00000642365.1:c.1971A>T | ||
| ENST00000642561.1:c.3188A>T | ENSP00000495099.1:p.Lys1063Met | |
| ENST00000642797.1:c.3188A>T | ENSP00000493846.1:p.Lys1063Met | |
| ENST00000642936.1:c.3185A>T | ENSP00000494514.1:p.Lys1062Met | |
| ENST00000643088.1:c.3185A>T | ENSP00000494747.1:p.Lys1062Met | |
| ENST00000643946.1:c.3317A>T | ENSP00000495927.1:p.Lys1106Met | |
| ENST00000644043.1:c.3188A>T | ENSP00000496262.1:p.Lys1063Met | |
| ENST00000644329.1:c.3185A>T | ENSP00000496611.1:p.Lys1062Met | |
| ENST00000644335.1:c.3188A>T | ENSP00000496317.1:p.Lys1063Met | |
| ENST00000644399.1:c.3307A>T | ||
| ENST00000644722.1:n.463A>T | ||
| ENST00000645024.1:n.1470A>T | ||
| ENST00000646388.1:c.3317A>T | ENSP00000495921.1:p.Lys1106Met | |
| ENST00000646634.1:n.2201A>T | ||
| ENST00000647042.1:n.609A>T | ||
| ENST00000219476.7:c.3317A>T | ENSP00000219476.3:p.Lys1106Met | |
| ENST00000350773.8:c.3317A>T | ENSP00000344383.4:p.Lys1106Met | |
| ENST00000382538.10:c.3041A>T | ENSP00000371978.6:p.Lys1014Met | |
| ENST00000401874.6:c.3185A>T | ENSP00000384468.2:p.Lys1062Met | |
| ENST00000439117.6:c.*2484A>T | ENSP00000406980.2:n.*2484A>T | |
| ENST00000439673.6:c.3077A>T | ENSP00000399232.2:p.Lys1026Met | |
| ENST00000471143.5:c.543A>T | ||
| ENST00000483020.5:c.557A>T | ENSP00000460310.1:n.557A>T | |
| ENST00000497886.5:n.1144A>T | ||
| ENST00000561695.1:n.542A>T | ||
| ENST00000568366.5:n.674A>T | ||
| ENST00000568454.5:c.3218A>T | ENSP00000454487.1:p.Lys1073Met | |
| NM_000548.3:c.3317A>T , LRG_487t1:c.3317A>T | NP_000539.2:p.Lys1106Met | |
| NM_001077183.1:c.3185A>T | NP_001070651.1:p.Lys1062Met | |
| NM_001114382.1:c.3317A>T | NP_001107854.1:p.Lys1106Met | |
| XM_005255529.3:c.3188A>T | XP_005255586.2:p.Lys1063Met | |
| XM_005255531.3:c.3188A>T | XP_005255588.2:p.Lys1063Met | |
| XM_011522636.1:c.3317A>T | XP_011520938.1:p.Lys1106Met | |
| XM_011522637.1:c.3314A>T | XP_011520939.1:p.Lys1105Met | |
| XM_011522638.1:c.3206A>T | XP_011520940.1:p.Lys1069Met | |
| XM_011522639.1:c.3188A>T | XP_011520941.1:p.Lys1063Met | |
| XM_011522640.1:c.3185A>T | XP_011520942.1:p.Lys1062Met | |
| XM_011522641.1:c.3077A>T | XP_011520943.1:p.Lys1026Met | |
| NM_000548.4:c.3317A>T | NP_000539.2:p.Lys1106Met | |
| NM_001077183.2:c.3185A>T | NP_001070651.1:p.Lys1062Met | |
| NM_001114382.2:c.3317A>T | NP_001107854.1:p.Lys1106Met | |
| NM_001318827.1:c.3077A>T | NP_001305756.1:p.Lys1026Met | |
| NM_001318829.1:c.3041A>T | NP_001305758.1:p.Lys1014Met | |
| NM_001318831.1:c.2585A>T | NP_001305760.1:p.Lys862Met | |
| NM_001318832.1:c.3218A>T | NP_001305761.1:p.Lys1073Met | |
| NM_001363528.1:c.3188A>T | NP_001350457.1:p.Lys1063Met | |
| NM_021055.2:c.3188A>T | NP_066399.2:p.Lys1063Met | |
| XM_005255531.4:c.3188A>T | XP_005255588.2:p.Lys1063Met | |
| XM_011522636.2:c.3317A>T | XP_011520938.1:p.Lys1106Met | |
| XM_011522637.2:c.3314A>T | XP_011520939.1:p.Lys1105Met | |
| XM_011522638.2:c.3479A>T | XP_011520940.2:p.Lys1160Met | |
| XM_011522639.2:c.3188A>T | XP_011520941.1:p.Lys1063Met | |
| XM_011522640.2:c.3185A>T | XP_011520942.1:p.Lys1062Met | |
| XM_017023615.1:c.3314A>T | XP_016879104.1:p.Lys1105Met | |
| XM_017023616.1:c.3185A>T | XP_016879105.1:p.Lys1062Met | |
| XM_017023617.1:c.3350A>T | XP_016879106.1:p.Lys1117Met | |
| XM_017023618.1:c.1973A>T | XP_016879107.1:p.Lys658Met | |
| XM_024450413.1:c.3185A>T | XP_024306181.1:p.Lys1062Met | |
| NM_000548.5:c.3317A>T MANE Select | NP_000539.2:p.Lys1106Met | |
| NM_001370404.1:c.3185A>T | NP_001357333.1:p.Lys1062Met | |
| NM_001370405.1:c.3188A>T | NP_001357334.1:p.Lys1063Met | |
| NM_001077183.3:c.3185A>T | NP_001070651.1:p.Lys1062Met | |
| NM_001114382.3:c.3317A>T | NP_001107854.1:p.Lys1106Met | |
| NM_001318827.2:c.3077A>T | NP_001305756.1:p.Lys1026Met | |
| NM_001318829.2:c.3041A>T | NP_001305758.1:p.Lys1014Met | |
| NM_001318831.2:c.2585A>T | NP_001305760.1:p.Lys862Met | |
| NM_001318832.2:c.3218A>T | NP_001305761.1:p.Lys1073Met | |
| NM_001363528.2:c.3188A>T | NP_001350457.1:p.Lys1063Met | |
| NM_021055.3:c.3188A>T | NP_066399.2:p.Lys1063Met |