Linked Data
ClinVar Variation Id:
135006
ClinVar RCV Id:
RCV000121773
dbSNP Id:
rs373477703
ExAC:
3:52668822 T / C
gnomAD v2:
3-52668822-T-C
gnomAD v3:
3-52634806-T-C
gnomAD v4:
3-52634806-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52634806T>C , CM000665.2:g.52634806T>C | GRCh38 |
| NC_000003.11:g.52668822T>C , CM000665.1:g.52668822T>C | GRCh37 |
| NC_000003.10:g.52643862T>C | NCBI36 |
| NG_032108.1:g.56045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707071.1:c.1097A>G MANE Select | ENSP00000516722.1:p.Tyr366Cys | |
| ENST00000296302.11:c.1097A>G | ENSP00000296302.7:p.Tyr366Cys | |
| ENST00000337303.8:c.1097A>G | ENSP00000338302.4:p.Tyr366Cys | |
| ENST00000356770.8:c.1001A>G | ENSP00000349213.4:p.Tyr334Cys | |
| ENST00000394830.7:c.1097A>G | ENSP00000378307.3:p.Tyr366Cys | |
| ENST00000409057.5:c.1097A>G | ENSP00000386593.1:p.Tyr366Cys | |
| ENST00000409114.7:c.1097A>G | ENSP00000386643.3:p.Tyr366Cys | |
| ENST00000409767.5:c.1097A>G | ENSP00000386601.1:p.Tyr366Cys | |
| ENST00000410007.5:c.1097A>G | ENSP00000386529.1:p.Tyr366Cys | |
| ENST00000412587.5:c.1097A>G | ENSP00000404579.1:p.Tyr366Cys | |
| ENST00000423351.5:c.1097A>G | ENSP00000387775.1:p.Tyr366Cys | |
| ENST00000446103.5:c.929A>G | ENSP00000397662.1:p.Tyr310Cys | |
| NM_018313.4:c.1097A>G | NP_060783.3:p.Tyr366Cys | |
| XM_005265275.3:c.1151A>G | XP_005265332.1:p.Tyr384Cys | |
| XM_005265279.3:c.1097A>G | XP_005265336.1:p.Tyr366Cys | |
| XM_005265280.2:c.1097A>G | XP_005265337.1:p.Tyr366Cys | |
| XM_005265282.2:c.1097A>G | XP_005265339.1:p.Tyr366Cys | |
| XM_005265283.2:c.1097A>G | XP_005265340.1:p.Tyr366Cys | |
| XM_006713220.2:c.1151A>G | XP_006713283.1:p.Tyr384Cys | |
| XM_006713221.2:c.1151A>G | XP_006713284.1:p.Tyr384Cys | |
| XM_011533900.1:c.1160A>G | XP_011532202.1:p.Tyr387Cys | |
| XM_011533901.1:c.1160A>G | XP_011532203.1:p.Tyr387Cys | |
| XM_011533902.1:c.1160A>G | XP_011532204.1:p.Tyr387Cys | |
| XM_011533903.1:c.1160A>G | XP_011532205.1:p.Tyr387Cys | |
| XM_011533904.1:c.1157A>G | XP_011532206.1:p.Tyr386Cys | |
| XM_011533905.1:c.1160A>G | XP_011532207.1:p.Tyr387Cys | |
| XM_011533906.1:c.1160A>G | XP_011532208.1:p.Tyr387Cys | |
| XM_011533907.1:c.1097A>G | XP_011532209.1:p.Tyr366Cys | |
| XM_011533908.1:c.1097A>G | XP_011532210.1:p.Tyr366Cys | |
| XM_011533909.1:c.1160A>G | XP_011532211.1:p.Tyr387Cys | |
| XM_011533910.1:c.1064A>G | XP_011532212.1:p.Tyr355Cys | |
| XM_011533911.1:c.1160A>G | XP_011532213.1:p.Tyr387Cys | |
| XM_011533912.1:c.1160A>G | XP_011532214.1:p.Tyr387Cys | |
| XM_011533913.1:c.1160A>G | XP_011532215.1:p.Tyr387Cys | |
| XM_011533914.1:c.1160A>G | XP_011532216.1:p.Tyr387Cys | |
| XM_011533915.1:c.1160A>G | XP_011532217.1:p.Tyr387Cys | |
| XM_011533916.1:c.1160A>G | XP_011532218.1:p.Tyr387Cys | |
| XM_011533917.1:c.1064A>G | XP_011532219.1:p.Tyr355Cys | |
| XM_011533918.1:c.1160A>G | XP_011532220.1:p.Tyr387Cys | |
| XM_011533919.1:c.1160A>G | XP_011532221.1:p.Tyr387Cys | |
| XR_940466.1:n.1592A>G | ||
| NM_001350074.1:c.1160A>G | NP_001337003.1:p.Tyr387Cys | |
| NM_001350075.1:c.1097A>G | NP_001337004.1:p.Tyr366Cys | |
| NM_001350076.1:c.1160A>G | NP_001337005.1:p.Tyr387Cys | |
| NM_001350077.1:c.1151A>G | NP_001337006.1:p.Tyr384Cys | |
| NM_001350078.1:c.1160A>G | NP_001337007.1:p.Tyr387Cys | |
| NM_001350079.1:c.1160A>G | NP_001337008.1:p.Tyr387Cys | |
| NM_001366070.1:c.1160A>G | NP_001352999.1:p.Tyr387Cys | |
| NM_001366071.1:c.1160A>G | NP_001353000.1:p.Tyr387Cys | |
| NM_001366072.1:c.1160A>G | NP_001353001.1:p.Tyr387Cys | |
| NM_001366073.1:c.1151A>G | NP_001353002.1:p.Tyr384Cys | |
| NM_001366074.1:c.1148A>G | NP_001353003.1:p.Tyr383Cys | |
| NM_001366075.1:c.1160A>G | NP_001353004.1:p.Tyr387Cys | |
| NM_001366076.1:c.1055A>G | NP_001353005.1:p.Tyr352Cys | |
| NM_181042.4:c.1097A>G | NP_851385.1:p.Tyr366Cys | |
| XM_005265279.5:c.1097A>G | XP_005265336.1:p.Tyr366Cys | |
| XM_005265280.3:c.1097A>G | XP_005265337.1:p.Tyr366Cys | |
| XM_005265282.4:c.1097A>G | XP_005265339.1:p.Tyr366Cys | |
| XM_011533900.3:c.1160A>G | XP_011532202.1:p.Tyr387Cys | |
| XM_011533902.3:c.1160A>G | XP_011532204.1:p.Tyr387Cys | |
| XM_011533903.3:c.1160A>G | XP_011532205.1:p.Tyr387Cys | |
| XM_017006725.1:c.1187A>G | XP_016862214.1:p.Tyr396Cys | |
| XM_017006726.1:c.1187A>G | XP_016862215.1:p.Tyr396Cys | |
| XM_017006727.1:c.1187A>G | XP_016862216.1:p.Tyr396Cys | |
| XM_017006728.1:c.1187A>G | XP_016862217.1:p.Tyr396Cys | |
| XM_017006729.2:c.1187A>G | XP_016862218.1:p.Tyr396Cys | |
| XM_017006730.1:c.1178A>G | XP_016862219.1:p.Tyr393Cys | |
| XM_017006731.1:c.1178A>G | XP_016862220.1:p.Tyr393Cys | |
| XM_017006732.1:c.1160A>G | XP_016862221.1:p.Tyr387Cys | |
| XM_017006733.2:c.1148A>G | XP_016862222.1:p.Tyr383Cys | |
| XM_017006734.2:c.1148A>G | XP_016862223.1:p.Tyr383Cys | |
| XM_017006735.2:c.1187A>G | XP_016862224.1:p.Tyr396Cys | |
| XM_017006736.1:c.1187A>G | XP_016862225.1:p.Tyr396Cys | |
| XM_017006737.1:c.1124A>G | XP_016862226.1:p.Tyr375Cys | |
| XM_017006738.2:c.1124A>G | XP_016862227.1:p.Tyr375Cys | |
| XM_017006739.1:c.1124A>G | XP_016862228.1:p.Tyr375Cys | |
| XM_017006740.1:c.1124A>G | XP_016862229.1:p.Tyr375Cys | |
| XM_017006741.2:c.1160A>G | XP_016862230.1:p.Tyr387Cys | |
| XM_017006742.1:c.1160A>G | XP_016862231.1:p.Tyr387Cys | |
| XM_017006743.2:c.1187A>G | XP_016862232.1:p.Tyr396Cys | |
| XM_017006744.1:c.1151A>G | XP_016862233.1:p.Tyr384Cys | |
| XM_017006745.2:c.1097A>G | XP_016862234.1:p.Tyr366Cys | |
| XM_017006746.2:c.1097A>G | XP_016862235.1:p.Tyr366Cys | |
| XM_017006747.1:c.1091A>G | XP_016862236.1:p.Tyr364Cys | |
| XM_017006748.1:c.1097A>G | XP_016862237.1:p.Tyr366Cys | |
| XM_017006749.1:c.1097A>G | XP_016862238.1:p.Tyr366Cys | |
| XM_017006750.1:c.1097A>G | XP_016862239.1:p.Tyr366Cys | |
| XM_017006751.2:c.1160A>G | XP_016862240.1:p.Tyr387Cys | |
| XM_017006752.1:c.1187A>G | XP_016862241.1:p.Tyr396Cys | |
| XM_017006753.2:c.1187A>G | XP_016862242.1:p.Tyr396Cys | |
| XM_017006754.1:c.1160A>G | XP_016862243.1:p.Tyr387Cys | |
| XM_017006755.2:c.1160A>G | XP_016862244.1:p.Tyr387Cys | |
| XM_017006756.2:c.1160A>G | XP_016862245.1:p.Tyr387Cys | |
| XM_017006758.1:c.1097A>G | XP_016862247.1:p.Tyr366Cys | |
| XM_017006759.2:c.1160A>G | XP_016862248.1:p.Tyr387Cys | |
| XM_017006764.2:c.1160A>G | XP_016862253.1:p.Tyr387Cys | |
| XM_024453618.1:c.1151A>G | XP_024309386.1:p.Tyr384Cys | |
| XM_024453619.1:c.1151A>G | XP_024309387.1:p.Tyr384Cys | |
| XR_001740194.2:n.1972A>G | ||
| NM_001350074.2:c.1160A>G | NP_001337003.1:p.Tyr387Cys | |
| NM_001350075.2:c.1097A>G | NP_001337004.1:p.Tyr366Cys | |
| NM_001350076.2:c.1160A>G | NP_001337005.1:p.Tyr387Cys | |
| NM_001350077.2:c.1151A>G | NP_001337006.1:p.Tyr384Cys | |
| NM_001350078.2:c.1160A>G | NP_001337007.1:p.Tyr387Cys | |
| NM_001350079.2:c.1160A>G | NP_001337008.1:p.Tyr387Cys | |
| NM_001366070.2:c.1160A>G | NP_001352999.1:p.Tyr387Cys | |
| NM_001366071.2:c.1160A>G | NP_001353000.1:p.Tyr387Cys | |
| NM_001366072.2:c.1160A>G | NP_001353001.1:p.Tyr387Cys | |
| NM_001366073.2:c.1151A>G | NP_001353002.1:p.Tyr384Cys | |
| NM_001366074.2:c.1148A>G | NP_001353003.1:p.Tyr383Cys | |
| NM_001366075.2:c.1160A>G | NP_001353004.1:p.Tyr387Cys | |
| NM_001366076.2:c.1055A>G | NP_001353005.1:p.Tyr352Cys | |
| NM_018313.5:c.1097A>G | NP_060783.3:p.Tyr366Cys | |
| NM_181042.5:c.1097A>G | NP_851385.1:p.Tyr366Cys | |
| NM_001394867.1:c.1097A>G | NP_001381796.1:p.Tyr366Cys | |
| NM_001394868.1:c.1097A>G | NP_001381797.1:p.Tyr366Cys | |
| NM_001394869.1:c.1097A>G | NP_001381798.1:p.Tyr366Cys | |
| NM_001394870.1:c.1151A>G | NP_001381799.1:p.Tyr384Cys | |
| NM_001394871.1:c.1097A>G | NP_001381800.1:p.Tyr366Cys | |
| NM_001394872.1:c.1097A>G | NP_001381801.1:p.Tyr366Cys | |
| NM_001394873.1:c.1097A>G | NP_001381802.1:p.Tyr366Cys | |
| NM_001394874.1:c.1097A>G | NP_001381803.1:p.Tyr366Cys | |
| NM_001394875.1:c.1097A>G | NP_001381804.1:p.Tyr366Cys | |
| NM_001394876.1:c.1097A>G | NP_001381805.1:p.Tyr366Cys | |
| NM_001394877.1:c.1097A>G | NP_001381806.1:p.Tyr366Cys | |
| NM_001394878.1:c.1061A>G | NP_001381807.1:p.Tyr354Cys | |
| NM_001394879.1:c.1001A>G | NP_001381808.1:p.Tyr334Cys | |
| NM_001400470.1:c.1097A>G | NP_001387399.1:p.Tyr366Cys | |
| NM_001400471.1:c.1097A>G | NP_001387400.1:p.Tyr366Cys | |
| NM_001400472.1:c.1097A>G | NP_001387401.1:p.Tyr366Cys | |
| NM_001400473.1:c.1097A>G | NP_001387402.1:p.Tyr366Cys | |
| NM_001400474.1:c.1097A>G | NP_001387403.1:p.Tyr366Cys | |
| NM_001400475.1:c.1097A>G | NP_001387404.1:p.Tyr366Cys | |
| NM_001400479.1:c.1097A>G | NP_001387408.1:p.Tyr366Cys | |
| NM_001400481.1:c.1097A>G | NP_001387410.1:p.Tyr366Cys | |
| NM_001400484.1:c.1097A>G | NP_001387413.1:p.Tyr366Cys | |
| NM_001400487.1:c.1001A>G | NP_001387416.1:p.Tyr334Cys | |
| NM_001400490.1:c.1097A>G | NP_001387419.1:p.Tyr366Cys | |
| NM_001400496.1:c.1097A>G | NP_001387425.1:p.Tyr366Cys | |
| NM_001400500.1:c.1097A>G | NP_001387429.1:p.Tyr366Cys | |
| NM_001400501.1:c.1097A>G | NP_001387430.1:p.Tyr366Cys | |
| NM_001400504.1:c.1097A>G | NP_001387433.1:p.Tyr366Cys | |
| NR_174502.1:n.1277A>G |