Linked Data
ClinVar Variation Id:
83303
ClinVar RCV Id:
RCV000074302
dbSNP Id:
rs587777063
PubMed:
PMID:23562820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153294460A>T , CM000666.2:g.153294460A>T | GRCh38 |
| NC_000004.11:g.154215612A>T , CM000666.1:g.154215612A>T | GRCh37 |
| NC_000004.10:g.154435062A>T | NCBI36 |
| NG_041788.1:g.146343A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338700.10:c.761A>T MANE Select | ENSP00000339659.5:p.Glu254Val | |
| ENST00000433687.2:c.422A>T | ENSP00000400375.2:p.Glu141Val | |
| ENST00000437508.7:c.680A>T | ENSP00000415812.2:p.Glu227Val | |
| ENST00000460908.2:c.680A>T | ENSP00000488751.2:p.Glu227Val | |
| ENST00000479711.6:n.846A>T | ||
| ENST00000494872.6:c.680A>T | ENSP00000488229.2:p.Glu227Val | |
| ENST00000674680.1:c.680A>T | ENSP00000502469.1:p.Glu227Val | |
| ENST00000674718.1:n.849A>T | ||
| ENST00000674726.1:c.731A>T | ENSP00000502266.1:p.Glu244Val | |
| ENST00000674730.1:c.424-853A>T | ENSP00000502130.1:n.424-853A>T | |
| ENST00000674769.1:c.702+32A>T | ENSP00000502203.1:n.702+32A>T | |
| ENST00000674786.1:c.*313A>T | ENSP00000502289.1:n.*313A>T | |
| ENST00000674787.1:n.542-853A>T | ||
| ENST00000674832.1:c.*77-853A>T | ENSP00000502788.1:n.*77-853A>T | |
| ENST00000674847.1:c.827A>T | ENSP00000501983.1:p.Glu276Val | |
| ENST00000674872.1:c.648+32A>T | ENSP00000501979.1:n.648+32A>T | |
| ENST00000674874.1:c.680A>T | ENSP00000502519.1:p.Glu227Val | |
| ENST00000674876.1:c.680A>T | ENSP00000501652.1:p.Glu227Val | |
| ENST00000674896.1:c.731A>T | ENSP00000501725.1:p.Glu244Val | |
| ENST00000674935.1:c.734A>T | ENSP00000501672.1:p.Glu245Val | |
| ENST00000674967.1:c.680A>T | ENSP00000501627.1:p.Glu227Val | |
| ENST00000674976.1:c.680A>T | ENSP00000502356.1:p.Glu227Val | |
| ENST00000675019.1:n.937A>T | ||
| ENST00000675049.1:n.1157-853A>T | ||
| ENST00000675054.1:c.680A>T | ENSP00000502543.1:p.Glu227Val | |
| ENST00000675063.1:c.773A>T | ENSP00000501562.1:p.Glu258Val | |
| ENST00000675079.1:c.680A>T | ENSP00000502677.1:p.Glu227Val | |
| ENST00000675136.1:c.*313A>T | ENSP00000502292.1:n.*313A>T | |
| ENST00000675146.1:c.115-853A>T | ENSP00000501760.1:n.115-853A>T | |
| ENST00000675159.1:c.680A>T | ENSP00000501792.1:p.Glu227Val | |
| ENST00000675170.1:n.992A>T | ||
| ENST00000675210.1:c.734A>T | ENSP00000501886.1:p.Glu245Val | |
| ENST00000675239.1:c.680A>T | ENSP00000501915.1:p.Glu227Val | |
| ENST00000675293.1:c.680A>T | ENSP00000502348.1:p.Glu227Val | |
| ENST00000675312.1:c.427-853A>T | ENSP00000501684.1:n.427-853A>T | |
| ENST00000675315.1:c.680A>T | ENSP00000502676.1:p.Glu227Val | |
| ENST00000675340.1:c.648+32A>T | ENSP00000502290.1:n.648+32A>T | |
| ENST00000675343.1:c.372+18330A>T | ENSP00000502344.1:n.372+18330A>T | |
| ENST00000675348.1:c.*384A>T | ENSP00000502568.1:n.*384A>T | |
| ENST00000675363.1:n.638A>T | ||
| ENST00000675384.1:c.680A>T | ENSP00000502114.1:p.Glu227Val | |
| ENST00000675411.1:c.*381A>T | ENSP00000502140.1:n.*381A>T | |
| ENST00000675412.1:c.*384A>T | ENSP00000502332.1:n.*384A>T | |
| ENST00000675425.1:c.373-853A>T | ENSP00000502492.1:n.373-853A>T | |
| ENST00000675456.1:c.423+18330A>T | ENSP00000502472.1:n.423+18330A>T | |
| ENST00000675462.1:c.*384A>T | ENSP00000502236.1:n.*384A>T | |
| ENST00000675492.1:c.373-853A>T | ENSP00000502720.1:n.373-853A>T | |
| ENST00000675518.1:c.373-853A>T | ENSP00000501852.1:n.373-853A>T | |
| ENST00000675567.1:c.734A>T | ENSP00000502659.1:p.Glu245Val | |
| ENST00000675611.1:c.372+18330A>T | ENSP00000501564.1:n.372+18330A>T | |
| ENST00000675623.1:c.372+18330A>T | ENSP00000501690.1:n.372+18330A>T | |
| ENST00000675627.1:c.*384A>T | ENSP00000502501.1:n.*384A>T | |
| ENST00000675673.1:c.773A>T | ENSP00000502083.1:p.Glu258Val | |
| ENST00000675710.1:c.422A>T | ENSP00000501997.1:p.Glu141Val | |
| ENST00000675738.1:c.699+32A>T | ENSP00000502320.1:n.699+32A>T | |
| ENST00000675744.1:c.372+18330A>T | ENSP00000502458.1:n.372+18330A>T | |
| ENST00000675745.1:c.680A>T | ENSP00000501662.1:p.Glu227Val | |
| ENST00000675780.1:c.648+32A>T | ENSP00000502541.1:n.648+32A>T | |
| ENST00000675782.1:c.422A>T | ENSP00000502776.1:p.Glu141Val | |
| ENST00000675783.1:c.423+18330A>T | ENSP00000501883.1:n.423+18330A>T | |
| ENST00000675804.1:c.734A>T | ENSP00000501826.1:p.Glu245Val | |
| ENST00000675835.1:c.680A>T | ENSP00000501951.1:p.Glu227Val | |
| ENST00000675838.1:c.680A>T | ENSP00000501593.1:p.Glu227Val | |
| ENST00000675862.1:n.849A>T | ||
| ENST00000675871.1:n.1464A>T | ||
| ENST00000675899.1:c.680A>T | ENSP00000502775.1:p.Glu227Val | |
| ENST00000675977.1:c.734A>T | ENSP00000501671.1:p.Glu245Val | |
| ENST00000676015.1:c.*384A>T | ENSP00000501762.1:n.*384A>T | |
| ENST00000676029.1:c.*384A>T | ENSP00000501704.1:n.*384A>T | |
| ENST00000676033.1:c.*384A>T | ENSP00000501844.1:n.*384A>T | |
| ENST00000676057.1:n.685-853A>T | ||
| ENST00000676158.1:c.*279A>T | ENSP00000502658.1:n.*279A>T | |
| ENST00000676167.1:c.680A>T | ENSP00000502331.1:p.Glu227Val | |
| ENST00000676169.1:n.849A>T | ||
| ENST00000676172.1:c.680A>T | ENSP00000501822.1:p.Glu227Val | |
| ENST00000676191.1:c.426+18330A>T | ENSP00000502381.1:n.426+18330A>T | |
| ENST00000676196.1:c.427-853A>T | ENSP00000502366.1:n.427-853A>T | |
| ENST00000676202.1:c.734A>T | ENSP00000502782.1:p.Glu245Val | |
| ENST00000676220.1:c.*381A>T | ENSP00000501629.1:n.*381A>T | |
| ENST00000676224.1:c.372+18330A>T | ENSP00000502745.1:n.372+18330A>T | |
| ENST00000676252.1:c.680A>T | ENSP00000501586.1:p.Glu227Val | |
| ENST00000676264.1:c.680A>T | ENSP00000502089.1:p.Glu227Val | |
| ENST00000676291.1:c.426+18330A>T | ENSP00000502141.1:n.426+18330A>T | |
| ENST00000676305.1:n.849A>T | ||
| ENST00000676335.1:c.422A>T | ENSP00000502243.1:p.Glu141Val | |
| ENST00000676348.1:c.680A>T | ENSP00000502159.1:p.Glu227Val | |
| ENST00000676374.1:c.680A>T | ENSP00000502273.1:p.Glu227Val | |
| ENST00000676408.1:c.680A>T | ENSP00000502077.1:p.Glu227Val | |
| ENST00000676423.1:c.680A>T | ENSP00000501612.1:p.Glu227Val | |
| ENST00000676458.1:c.680A>T | ENSP00000501994.1:p.Glu227Val | |
| ENST00000338700.9:c.761A>T | ENSP00000339659.5:p.Glu254Val | |
| ENST00000437508.6:c.680A>T | ENSP00000415812.2:p.Glu227Val | |
| ENST00000479711.5:n.539-853A>T | ||
| ENST00000494872.5:c.680A>T | ENSP00000488229.1:p.Glu227Val | |
| NM_001130067.1:c.680A>T | NP_001123539.1:p.Glu227Val | |
| NM_015271.4:c.761A>T | NP_056086.2:p.Glu254Val | |
| XM_006714157.1:c.761A>T | XP_006714220.1:p.Glu254Val | |
| XM_006714158.1:c.758A>T | XP_006714221.1:p.Glu253Val | |
| XM_006714159.2:c.734A>T | XP_006714222.1:p.Glu245Val | |
| XM_006714160.1:c.680A>T | XP_006714223.1:p.Glu227Val | |
| XM_006714161.1:c.680A>T | XP_006714224.1:p.Glu227Val | |
| XM_006714162.1:c.680A>T | XP_006714225.1:p.Glu227Val | |
| XM_006714164.1:c.305A>T | XP_006714227.1:p.Glu102Val | |
| XM_006714165.2:c.305A>T | XP_006714228.1:p.Glu102Val | |
| XM_011531794.1:c.731A>T | XP_011530096.1:p.Glu244Val | |
| XM_011531795.1:c.680A>T | XP_011530097.1:p.Glu227Val | |
| XM_011531796.1:c.680A>T | XP_011530098.1:p.Glu227Val | |
| XM_011531797.1:c.680A>T | XP_011530099.1:p.Glu227Val | |
| XM_011531798.1:c.680A>T | XP_011530100.1:p.Glu227Val | |
| NM_001351054.1:c.734A>T | NP_001337983.1:p.Glu245Val | |
| NM_001351055.1:c.731A>T | NP_001337984.1:p.Glu244Val | |
| NM_001351056.1:c.680A>T | NP_001337985.1:p.Glu227Val | |
| NM_001351057.1:c.305A>T | NP_001337986.1:p.Glu102Val | |
| XM_006714165.3:c.305A>T | XP_006714228.1:p.Glu102Val | |
| XM_011531796.3:c.680A>T | XP_011530098.1:p.Glu227Val | |
| XM_017007943.1:c.758A>T | XP_016863432.1:p.Glu253Val | |
| XM_017007944.1:c.680A>T | XP_016863433.1:p.Glu227Val | |
| XM_017007945.1:c.680A>T | XP_016863434.1:p.Glu227Val | |
| XM_017007946.2:c.734A>T | XP_016863435.1:p.Glu245Val | |
| XM_017007947.1:c.731A>T | XP_016863436.1:p.Glu244Val | |
| XM_017007948.2:c.680A>T | XP_016863437.1:p.Glu227Val | |
| XM_017007949.1:c.680A>T | XP_016863438.1:p.Glu227Val | |
| XM_017007950.1:c.680A>T | XP_016863439.1:p.Glu227Val | |
| XM_017007951.1:c.680A>T | XP_016863440.1:p.Glu227Val | |
| XM_017007952.1:c.680A>T | XP_016863441.1:p.Glu227Val | |
| XM_017007953.2:c.305A>T | XP_016863442.1:p.Glu102Val | |
| XM_017007955.1:c.305A>T | XP_016863444.1:p.Glu102Val | |
| NM_015271.5:c.761A>T MANE Select | NP_056086.2:p.Glu254Val | |
| NM_001130067.2:c.680A>T | NP_001123539.1:p.Glu227Val | |
| NM_001351054.2:c.734A>T | NP_001337983.1:p.Glu245Val | |
| NM_001351055.2:c.731A>T | NP_001337984.1:p.Glu244Val | |
| NM_001351056.2:c.680A>T | NP_001337985.1:p.Glu227Val | |
| NM_001351057.2:c.305A>T | NP_001337986.1:p.Glu102Val | |
| NM_001375488.1:c.854A>T | NP_001362417.1:p.Glu285Val | |
| NM_001375489.1:c.851A>T | NP_001362418.1:p.Glu284Val | |
| NM_001375490.1:c.729+32A>T | NP_001362419.1:n.729+32A>T | |
| NM_001375491.1:c.726+32A>T | NP_001362420.1:n.726+32A>T | |
| NM_001375512.1:c.680A>T | NP_001362441.1:p.Glu227Val | |
| NM_001375513.1:c.680A>T | NP_001362442.1:p.Glu227Val | |
| NM_001375514.1:c.680A>T | NP_001362443.1:p.Glu227Val | |
| NM_001375515.1:c.680A>T | NP_001362444.1:p.Glu227Val | |
| NM_001375516.1:c.680A>T | NP_001362445.1:p.Glu227Val | |
| NM_001375517.1:c.680A>T | NP_001362446.1:p.Glu227Val | |
| NM_001375519.1:c.454-853A>T | NP_001362448.1:n.454-853A>T | |
| NM_001375520.1:c.451-853A>T | NP_001362449.1:n.451-853A>T | |
| NM_001375522.1:c.422A>T | NP_001362451.1:p.Glu141Val | |
| NM_001375523.1:c.422A>T | NP_001362452.1:p.Glu141Val | |
| NM_001375525.1:c.422A>T | NP_001362454.1:p.Glu141Val |