Linked Data
ClinVar Variation Id:
303746
dbSNP Id:
rs886048046
gnomAD v3:
11-17392898-A-T
gnomAD v4:
11-17392898-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17392898A>T , CM000673.2:g.17392898A>T | GRCh38 |
| NC_000011.9:g.17414445A>T , CM000673.1:g.17414445A>T | GRCh37 |
| NC_000011.8:g.17371021A>T | NCBI36 |
| NG_008867.1:g.89005T>A | |
| NG_012446.1:g.762T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4440T>A | ||
| ENST00000526037.6:n.774T>A | ||
| ENST00000528374.2:c.1430T>A | ||
| ENST00000529967.6:n.3178T>A | ||
| ENST00000532220.2:n.4072T>A | ||
| ENST00000642611.2:n.6172T>A | ||
| ENST00000682051.1:n.5001T>A | ||
| ENST00000682110.1:n.5054T>A | ||
| ENST00000682140.1:c.*625T>A | ENSP00000507829.1:n.*625T>A | |
| ENST00000682185.1:n.6144T>A | ||
| ENST00000682204.1:c.*2977T>A | ENSP00000507094.1:n.*2977T>A | |
| ENST00000682215.1:n.5421T>A | ||
| ENST00000682288.1:c.*3270T>A | ENSP00000507506.1:n.*3270T>A | |
| ENST00000682442.1:n.5274T>A | ||
| ENST00000682528.1:n.5131T>A | ||
| ENST00000682673.1:n.4998T>A | ||
| ENST00000682805.1:n.5459T>A | ||
| ENST00000682965.1:c.*1261T>A | ENSP00000508229.1:n.*1261T>A | |
| ENST00000683136.1:c.*93T>A | ENSP00000507768.1:n.*93T>A | |
| ENST00000683153.1:n.5096T>A | ||
| ENST00000683365.1:n.5156T>A | ||
| ENST00000683456.1:c.*1976T>A | ENSP00000508318.1:n.*1976T>A | |
| ENST00000683693.1:n.6515T>A | ||
| ENST00000684010.1:n.5049T>A | ||
| ENST00000684157.1:n.6039T>A | ||
| ENST00000684253.1:n.4957T>A | ||
| ENST00000684288.1:c.*3011T>A | ENSP00000507143.1:n.*3011T>A | |
| ENST00000684313.1:n.4486T>A | ||
| ENST00000684332.1:n.5127T>A | ||
| ENST00000684371.1:n.5160T>A | ||
| ENST00000684404.1:n.6082T>A | ||
| ENST00000684442.1:n.5278T>A | ||
| ENST00000684555.1:c.*3051T>A | ENSP00000507705.1:n.*3051T>A | |
| ENST00000684571.1:c.*93T>A | ENSP00000506935.1:n.*93T>A | |
| ENST00000684593.1:c.*4544T>A | ENSP00000507005.1:n.*4544T>A | |
| ENST00000684711.1:c.*3235T>A | ENSP00000506841.1:n.*3235T>A | |
| ENST00000302539.9:c.*93T>A | ENSP00000303960.4:n.*93T>A | |
| ENST00000389817.8:c.*93T>A MANE Select | ENSP00000374467.4:n.*93T>A | |
| ENST00000642579.1:c.2893T>A | ||
| ENST00000643562.1:c.*2961T>A | ENSP00000496124.1:n.*2961T>A | |
| ENST00000644484.1:c.*4225T>A | ENSP00000493558.1:n.*4225T>A | |
| ENST00000644772.1:c.*93T>A | ENSP00000494321.1:n.*93T>A | |
| ENST00000646592.1:c.4145T>A | ||
| ENST00000646902.1:c.*93T>A | ENSP00000494101.1:n.*93T>A | |
| ENST00000646993.1:c.*3277T>A | ENSP00000493720.1:n.*3277T>A | |
| ENST00000302539.8:c.*93T>A | ENSP00000303960.4:n.*93T>A | |
| ENST00000389817.7:c.*93T>A | ENSP00000374467.3:n.*93T>A | |
| ENST00000526037.5:n.599T>A | ||
| ENST00000531642.5:c.870T>A | ||
| NM_000352.4:c.*93T>A | NP_000343.2:n.*93T>A | |
| NM_001287174.1:c.*93T>A | NP_001274103.1:n.*93T>A | |
| XM_011520331.1:c.*93T>A | XP_011518633.1:n.*93T>A | |
| XM_011520333.1:c.*93T>A | XP_011518635.1:n.*93T>A | |
| XR_930890.1:n.4801T>A | ||
| NM_001351295.1:c.*93T>A | NP_001338224.1:n.*93T>A | |
| NM_001351296.1:c.*93T>A | NP_001338225.1:n.*93T>A | |
| NM_001351297.1:c.*93T>A | NP_001338226.1:n.*93T>A | |
| NR_147094.1:n.5134T>A | ||
| XM_017018197.2:c.*93T>A | XP_016873686.1:n.*93T>A | |
| XM_017018199.1:c.*93T>A | XP_016873688.1:n.*93T>A | |
| XM_017018202.1:c.*93T>A | XP_016873691.1:n.*93T>A | |
| XM_017018204.1:c.*93T>A | XP_016873693.1:n.*93T>A | |
| XM_024448668.1:c.*93T>A | XP_024304436.1:n.*93T>A | |
| XR_001747945.2:n.4876T>A | ||
| XR_001747946.2:n.4807T>A | ||
| XR_002957189.1:n.6590T>A | ||
| NM_000352.6:c.*93T>A MANE Select | NP_000343.2:n.*93T>A | |
| NM_001287174.2:c.*93T>A | NP_001274103.1:n.*93T>A | |
| NM_001351295.2:c.*93T>A | NP_001338224.1:n.*93T>A | |
| NM_001351296.2:c.*93T>A | NP_001338225.1:n.*93T>A | |
| NM_001351297.2:c.*93T>A | NP_001338226.1:n.*93T>A | |
| NR_147094.2:n.5134T>A | ||
| NM_001287174.3:c.*93T>A | NP_001274103.1:n.*93T>A |