Linked Data
ClinVar Variation Id:
207741
ClinVar RCV Id:
RCV000190014
RCV000766975
RCV000562972
RCV001085820
RCV003462294
RCV004528972
RCV003996892
dbSNP Id:
rs796053492
gnomAD v2:
16-2129290-G-A
gnomAD v3:
16-2079289-G-A
gnomAD v4:
16-2079289-G-A
PubMed:
PMID:19254590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2079289G>A , CM000678.2:g.2079289G>A | GRCh38 |
| NC_000016.9:g.2129290G>A , CM000678.1:g.2129290G>A | GRCh37 |
| NC_000016.8:g.2069291G>A | NCBI36 |
| NG_005895.1:g.34984G>A , LRG_487:g.34984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*1563G>A | ENSP00000455997.2:n.*1563G>A | |
| ENST00000642206.2:c.3061G>A | ENSP00000495146.2:p.Glu1021Lys | |
| ENST00000642365.2:c.3142G>A | ENSP00000495459.2:p.Glu1048Lys | |
| ENST00000644417.2:c.*3594G>A | ENSP00000493912.2:n.*3594G>A | |
| ENST00000646464.2:c.*4067G>A | ENSP00000496610.2:n.*4067G>A | |
| ENST00000219476.9:c.3145G>A MANE Select | ENSP00000219476.3:p.Glu1049Lys | |
| ENST00000350773.9:c.3145G>A | ENSP00000344383.4:p.Glu1049Lys | |
| ENST00000401874.7:c.3013G>A | ENSP00000384468.2:p.Glu1005Lys | |
| ENST00000471143.6:c.373G>A | ENSP00000458541.2:n.373G>A | |
| ENST00000568366.6:n.502G>A | ||
| ENST00000568454.6:c.3046G>A | ENSP00000454487.1:p.Glu1016Lys | |
| ENST00000642365.1:c.1799G>A | ||
| ENST00000642561.1:c.3016G>A | ENSP00000495099.1:p.Glu1006Lys | |
| ENST00000642797.1:c.3016G>A | ENSP00000493846.1:p.Glu1006Lys | |
| ENST00000642936.1:c.3013G>A | ENSP00000494514.1:p.Glu1005Lys | |
| ENST00000643088.1:c.3013G>A | ENSP00000494747.1:p.Glu1005Lys | |
| ENST00000643946.1:c.3145G>A | ENSP00000495927.1:p.Glu1049Lys | |
| ENST00000644043.1:c.3016G>A | ENSP00000496262.1:p.Glu1006Lys | |
| ENST00000644329.1:c.3013G>A | ENSP00000496611.1:p.Glu1005Lys | |
| ENST00000644335.1:c.3016G>A | ENSP00000496317.1:p.Glu1006Lys | |
| ENST00000644399.1:c.3135G>A | ||
| ENST00000644722.1:n.291G>A | ||
| ENST00000645024.1:n.1298G>A | ||
| ENST00000646388.1:c.3145G>A | ENSP00000495921.1:p.Glu1049Lys | |
| ENST00000646634.1:n.2029G>A | ||
| ENST00000647042.1:n.437G>A | ||
| ENST00000219476.7:c.3145G>A | ENSP00000219476.3:p.Glu1049Lys | |
| ENST00000350773.8:c.3145G>A | ENSP00000344383.4:p.Glu1049Lys | |
| ENST00000382538.10:c.2869G>A | ENSP00000371978.6:p.Glu957Lys | |
| ENST00000401874.6:c.3013G>A | ENSP00000384468.2:p.Glu1005Lys | |
| ENST00000439117.6:c.*2312G>A | ENSP00000406980.2:n.*2312G>A | |
| ENST00000439673.6:c.2905G>A | ENSP00000399232.2:p.Glu969Lys | |
| ENST00000471143.5:c.371G>A | ||
| ENST00000483020.5:c.385G>A | ENSP00000460310.1:n.385G>A | |
| ENST00000497886.5:n.972G>A | ||
| ENST00000561695.1:n.370G>A | ||
| ENST00000568366.5:n.502G>A | ||
| ENST00000568454.5:c.3046G>A | ENSP00000454487.1:p.Glu1016Lys | |
| NM_000548.3:c.3145G>A , LRG_487t1:c.3145G>A | NP_000539.2:p.Glu1049Lys | |
| NM_001077183.1:c.3013G>A | NP_001070651.1:p.Glu1005Lys | |
| NM_001114382.1:c.3145G>A | NP_001107854.1:p.Glu1049Lys | |
| XM_005255529.3:c.3016G>A | XP_005255586.2:p.Glu1006Lys | |
| XM_005255531.3:c.3016G>A | XP_005255588.2:p.Glu1006Lys | |
| XM_011522636.1:c.3145G>A | XP_011520938.1:p.Glu1049Lys | |
| XM_011522637.1:c.3142G>A | XP_011520939.1:p.Glu1048Lys | |
| XM_011522638.1:c.3034G>A | XP_011520940.1:p.Glu1012Lys | |
| XM_011522639.1:c.3016G>A | XP_011520941.1:p.Glu1006Lys | |
| XM_011522640.1:c.3013G>A | XP_011520942.1:p.Glu1005Lys | |
| XM_011522641.1:c.2905G>A | XP_011520943.1:p.Glu969Lys | |
| NM_000548.4:c.3145G>A | NP_000539.2:p.Glu1049Lys | |
| NM_001077183.2:c.3013G>A | NP_001070651.1:p.Glu1005Lys | |
| NM_001114382.2:c.3145G>A | NP_001107854.1:p.Glu1049Lys | |
| NM_001318827.1:c.2905G>A | NP_001305756.1:p.Glu969Lys | |
| NM_001318829.1:c.2869G>A | NP_001305758.1:p.Glu957Lys | |
| NM_001318831.1:c.2413G>A | NP_001305760.1:p.Glu805Lys | |
| NM_001318832.1:c.3046G>A | NP_001305761.1:p.Glu1016Lys | |
| NM_001363528.1:c.3016G>A | NP_001350457.1:p.Glu1006Lys | |
| NM_021055.2:c.3016G>A | NP_066399.2:p.Glu1006Lys | |
| XM_005255531.4:c.3016G>A | XP_005255588.2:p.Glu1006Lys | |
| XM_011522636.2:c.3145G>A | XP_011520938.1:p.Glu1049Lys | |
| XM_011522637.2:c.3142G>A | XP_011520939.1:p.Glu1048Lys | |
| XM_011522638.2:c.3307G>A | XP_011520940.2:p.Glu1103Lys | |
| XM_011522639.2:c.3016G>A | XP_011520941.1:p.Glu1006Lys | |
| XM_011522640.2:c.3013G>A | XP_011520942.1:p.Glu1005Lys | |
| XM_017023615.1:c.3142G>A | XP_016879104.1:p.Glu1048Lys | |
| XM_017023616.1:c.3013G>A | XP_016879105.1:p.Glu1005Lys | |
| XM_017023617.1:c.3178G>A | XP_016879106.1:p.Glu1060Lys | |
| XM_017023618.1:c.1801G>A | XP_016879107.1:p.Glu601Lys | |
| XM_024450413.1:c.3013G>A | XP_024306181.1:p.Glu1005Lys | |
| NM_000548.5:c.3145G>A MANE Select | NP_000539.2:p.Glu1049Lys | |
| NM_001370404.1:c.3013G>A | NP_001357333.1:p.Glu1005Lys | |
| NM_001370405.1:c.3016G>A | NP_001357334.1:p.Glu1006Lys | |
| NM_001077183.3:c.3013G>A | NP_001070651.1:p.Glu1005Lys | |
| NM_001114382.3:c.3145G>A | NP_001107854.1:p.Glu1049Lys | |
| NM_001318827.2:c.2905G>A | NP_001305756.1:p.Glu969Lys | |
| NM_001318829.2:c.2869G>A | NP_001305758.1:p.Glu957Lys | |
| NM_001318831.2:c.2413G>A | NP_001305760.1:p.Glu805Lys | |
| NM_001318832.2:c.3046G>A | NP_001305761.1:p.Glu1016Lys | |
| NM_001363528.2:c.3016G>A | NP_001350457.1:p.Glu1006Lys | |
| NM_021055.3:c.3016G>A | NP_066399.2:p.Glu1006Lys |