Linked Data
ClinVar Variation Id:
512616
dbSNP Id:
rs188583221
ExAC:
6:135611614 C / A
gnomAD v2:
6-135611614-C-A
gnomAD v3:
6-135290476-C-A
gnomAD v4:
6-135290476-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135290476C>A , CM000668.2:g.135290476C>A | GRCh38 |
| NC_000006.11:g.135611614C>A , CM000668.1:g.135611614C>A | GRCh37 |
| NC_000006.10:g.135653307C>A | NCBI36 |
| NG_008643.1:g.212290G>T | |
| NG_008643.2:g.212290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265602.11:c.3535G>T MANE Select | ENSP00000265602.6:p.Asp1179Tyr | |
| ENST00000498558.6:n.576G>T | ||
| ENST00000527681.2:c.1204G>T | ||
| ENST00000679434.1:c.5151G>T | ENSP00000505592.1:n.5151G>T | |
| ENST00000679450.1:c.3274G>T | ENSP00000506494.1:p.Asp1092Tyr | |
| ENST00000679490.1:n.2910G>T | ||
| ENST00000679502.1:n.2361-4829G>T | ||
| ENST00000679589.1:c.*3563G>T | ENSP00000506644.1:n.*3563G>T | |
| ENST00000679668.1:c.5067G>T | ENSP00000505364.1:n.5067G>T | |
| ENST00000679672.1:c.*1510G>T | ENSP00000505697.1:n.*1510G>T | |
| ENST00000679711.1:c.1829G>T | ||
| ENST00000679742.1:c.4896-4829G>T | ENSP00000504890.1:n.4896-4829G>T | |
| ENST00000679890.1:n.2026G>T | ||
| ENST00000679925.1:c.3486-4829G>T | ENSP00000505502.1:n.3486-4829G>T | |
| ENST00000679943.1:c.3596G>T | ENSP00000505663.1:n.3596G>T | |
| ENST00000680071.1:n.4308G>T | ||
| ENST00000680119.1:c.3760G>T | ENSP00000506403.1:n.3760G>T | |
| ENST00000680328.1:n.644G>T | ||
| ENST00000680337.1:c.944-4829G>T | ||
| ENST00000680561.1:n.6229-4829G>T | ||
| ENST00000680826.1:c.3720G>T | ENSP00000505224.1:n.3720G>T | |
| ENST00000680840.1:c.3763G>T | ENSP00000505809.1:n.3763G>T | |
| ENST00000680965.1:c.*989G>T | ENSP00000505398.1:n.*989G>T | |
| ENST00000681022.1:c.3535G>T | ENSP00000505121.1:p.Asp1179Tyr | |
| ENST00000681057.1:n.2744-4829G>T | ||
| ENST00000681196.1:n.4259-4829G>T | ||
| ENST00000681301.1:c.3382G>T | ENSP00000505093.1:p.Asp1128Tyr | |
| ENST00000681331.1:n.1264G>T | ||
| ENST00000681332.1:n.4052G>T | ||
| ENST00000681340.1:c.3535G>T | ENSP00000505666.1:p.Asp1179Tyr | |
| ENST00000681365.1:c.3535G>T | ENSP00000506604.1:p.Asp1179Tyr | |
| ENST00000681488.1:c.3404G>T | ENSP00000505884.1:n.3404G>T | |
| ENST00000681522.1:c.3535G>T | ENSP00000506005.1:p.Asp1179Tyr | |
| ENST00000681556.1:n.3669G>T | ||
| ENST00000681718.1:c.*2022G>T | ENSP00000505266.1:n.*2022G>T | |
| ENST00000681754.1:n.4223G>T | ||
| ENST00000681828.1:c.5091G>T | ENSP00000505608.1:n.5091G>T | |
| ENST00000681841.1:c.3535G>T | ENSP00000504965.1:p.Asp1179Tyr | |
| ENST00000681860.1:c.3351G>T | ENSP00000506250.1:n.3351G>T | |
| ENST00000265602.10:c.3535G>T | ENSP00000265602.6:p.Asp1179Tyr | |
| ENST00000367799.6:c.1985-4829G>T | ||
| ENST00000367800.8:c.3535G>T | ENSP00000356774.4:p.Asp1179Tyr | |
| ENST00000457866.6:c.3535G>T | ENSP00000388650.2:p.Asp1179Tyr | |
| ENST00000475846.6:c.1965G>T | ||
| ENST00000487135.1:n.155-4829G>T | ||
| ENST00000498558.5:n.384G>T | ||
| ENST00000527681.1:c.144G>T | ||
| NM_001134830.1:c.3535G>T | NP_001128302.1:p.Asp1179Tyr | |
| NM_001134831.1:c.3535G>T | NP_001128303.1:p.Asp1179Tyr | |
| NM_017651.4:c.3535G>T | NP_060121.3:p.Asp1179Tyr | |
| XM_011535910.1:c.3535G>T | XP_011534212.1:p.Asp1179Tyr | |
| XM_011535911.1:c.3535G>T | XP_011534213.1:p.Asp1179Tyr | |
| XM_011535914.1:c.*56G>T | XP_011534216.1:n.*56G>T | |
| XM_011535915.1:c.3486-4829G>T | XP_011534217.1:n.3486-4829G>T | |
| XR_942488.1:n.5377G>T | ||
| XR_942490.1:n.5328-4829G>T | ||
| XR_942493.1:n.5238G>T | ||
| XR_942494.1:n.5075G>T | ||
| NM_001350503.1:c.3535G>T | NP_001337432.1:p.Asp1179Tyr | |
| NM_001350504.1:c.3486-4829G>T | NP_001337433.1:n.3486-4829G>T | |
| XM_011535910.3:c.3535G>T | XP_011534212.1:p.Asp1179Tyr | |
| XM_011535911.3:c.3535G>T | XP_011534213.1:p.Asp1179Tyr | |
| XM_017010980.2:c.*56G>T | XP_016866469.1:n.*56G>T | |
| XM_017010981.2:c.3481G>T | XP_016866470.1:p.Asp1161Tyr | |
| XM_024446479.1:c.3481G>T | XP_024302247.1:p.Asp1161Tyr | |
| XR_001743479.2:n.5474G>T | ||
| XR_001743480.2:n.4302G>T | ||
| XR_001743481.2:n.4267G>T | ||
| XR_001743482.2:n.4170G>T | ||
| XR_001743483.2:n.5425-4829G>T | ||
| XR_001743484.2:n.5335G>T | ||
| XR_001743485.2:n.4031G>T | ||
| XR_001743486.2:n.5286-4829G>T | ||
| XR_001743487.2:n.5457G>T | ||
| XR_001743488.1:n.5699G>T | ||
| XR_001743489.2:n.5172G>T | ||
| XR_001743490.2:n.4153G>T | ||
| XR_002956286.1:n.3806G>T | ||
| XR_002956287.1:n.3757-4829G>T | ||
| NM_001134831.2:c.3535G>T MANE Select | NP_001128303.1:p.Asp1179Tyr | |
| NM_001134830.2:c.3535G>T | NP_001128302.1:p.Asp1179Tyr | |
| NM_001350503.2:c.3535G>T | NP_001337432.1:p.Asp1179Tyr | |
| NM_001350504.2:c.3486-4829G>T | NP_001337433.1:n.3486-4829G>T | |
| NM_017651.5:c.3535G>T | NP_060121.3:p.Asp1179Tyr |