UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
989953
dbSNP Id:
rs755577144
ExAC:
11:17417179 C / T
gnomAD v2:
11-17417179-C-T
gnomAD v4:
11-17395632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395632C>T , CM000673.2:g.17395632C>T | GRCh38 |
| NC_000011.9:g.17417179C>T , CM000673.1:g.17417179C>T | GRCh37 |
| NC_000011.8:g.17373755C>T | NCBI36 |
| NG_008867.1:g.86271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3886G>A | ||
| ENST00000528374.2:c.876G>A | ||
| ENST00000529967.6:n.2624G>A | ||
| ENST00000532220.2:n.3518G>A | ||
| ENST00000642611.2:n.5618G>A | ||
| ENST00000644057.2:n.861G>A | ||
| ENST00000645004.2:n.1784G>A | ||
| ENST00000682051.1:n.4447G>A | ||
| ENST00000682110.1:n.4500G>A | ||
| ENST00000682140.1:c.*71G>A | ENSP00000507829.1:n.*71G>A | |
| ENST00000682185.1:n.5590G>A | ||
| ENST00000682204.1:c.*2423G>A | ENSP00000507094.1:n.*2423G>A | |
| ENST00000682215.1:n.4867G>A | ||
| ENST00000682288.1:c.*2716G>A | ENSP00000507506.1:n.*2716G>A | |
| ENST00000682442.1:n.4720G>A | ||
| ENST00000682528.1:n.4577G>A | ||
| ENST00000682673.1:n.4444G>A | ||
| ENST00000682805.1:n.4905G>A | ||
| ENST00000682965.1:c.*707G>A | ENSP00000508229.1:n.*707G>A | |
| ENST00000683093.1:n.5584G>A | ||
| ENST00000683136.1:c.4168G>A | ENSP00000507768.1:p.Val1390Ile | |
| ENST00000683153.1:n.4542G>A | ||
| ENST00000683365.1:n.4602G>A | ||
| ENST00000683377.1:n.4500G>A | ||
| ENST00000683456.1:c.*1422G>A | ENSP00000508318.1:n.*1422G>A | |
| ENST00000683522.1:n.4500G>A | ||
| ENST00000683562.1:c.*2454G>A | ENSP00000508265.1:n.*2454G>A | |
| ENST00000683693.1:n.6065G>A | ||
| ENST00000683725.1:c.4285G>A | ENSP00000507496.1:p.Val1429Ile | |
| ENST00000684010.1:n.4495G>A | ||
| ENST00000684157.1:n.5485G>A | ||
| ENST00000684253.1:n.4403G>A | ||
| ENST00000684288.1:c.*2457G>A | ENSP00000507143.1:n.*2457G>A | |
| ENST00000684313.1:n.3932G>A | ||
| ENST00000684332.1:n.4573G>A | ||
| ENST00000684371.1:n.4606G>A | ||
| ENST00000684404.1:n.5528G>A | ||
| ENST00000684442.1:n.4724G>A | ||
| ENST00000684555.1:c.*2497G>A | ENSP00000507705.1:n.*2497G>A | |
| ENST00000684571.1:c.4126G>A | ENSP00000506935.1:p.Val1376Ile | |
| ENST00000684593.1:c.*3990G>A | ENSP00000507005.1:n.*3990G>A | |
| ENST00000684711.1:c.*2681G>A | ENSP00000506841.1:n.*2681G>A | |
| ENST00000302539.9:c.4288G>A | ENSP00000303960.4:p.Val1430Ile | |
| ENST00000389817.8:c.4285G>A MANE Select | ENSP00000374467.4:p.Val1429Ile | |
| ENST00000642271.1:c.4282G>A | ENSP00000493749.1:p.Val1428Ile | |
| ENST00000642579.1:c.2339G>A | ||
| ENST00000642611.1:n.5503G>A | ||
| ENST00000642902.1:c.4067G>A | ||
| ENST00000643260.1:c.4285G>A | ENSP00000494450.1:p.Val1429Ile | |
| ENST00000643562.1:c.*2407G>A | ENSP00000496124.1:n.*2407G>A | |
| ENST00000643925.1:c.2925G>A | ||
| ENST00000644057.1:n.362G>A | ||
| ENST00000644484.1:c.*3671G>A | ENSP00000493558.1:n.*3671G>A | |
| ENST00000644675.1:c.*2457G>A | ENSP00000494567.1:n.*2457G>A | |
| ENST00000644757.1:c.*3202+632G>A | ENSP00000495085.1:n.*3202+632G>A | |
| ENST00000644772.1:c.4351G>A | ENSP00000494321.1:p.Val1451Ile | |
| ENST00000645004.1:n.1978G>A | ||
| ENST00000645076.1:c.3484G>A | ||
| ENST00000645417.1:c.1473G>A | ||
| ENST00000645744.1:c.*3970G>A | ENSP00000494564.1:n.*3970G>A | |
| ENST00000645760.1:c.4706G>A | ||
| ENST00000645884.1:c.*1568G>A | ENSP00000495516.1:n.*1568G>A | |
| ENST00000646003.1:c.*2307G>A | ENSP00000495259.1:n.*2307G>A | |
| ENST00000646207.1:c.*3122G>A | ENSP00000495025.1:n.*3122G>A | |
| ENST00000646276.1:c.*3689G>A | ENSP00000496070.1:n.*3689G>A | |
| ENST00000646592.1:c.3591G>A | ||
| ENST00000646902.1:c.4252G>A | ENSP00000494101.1:p.Val1418Ile | |
| ENST00000646993.1:c.*2827G>A | ENSP00000493720.1:n.*2827G>A | |
| ENST00000647013.1:c.4291G>A | ENSP00000496741.1:n.4291G>A | |
| ENST00000647015.1:c.4036G>A | ENSP00000495389.1:p.Val1346Ile | |
| ENST00000647086.1:c.*3871G>A | ENSP00000493677.1:n.*3871G>A | |
| ENST00000647158.1:c.*2572G>A | ENSP00000495744.1:n.*2572G>A | |
| ENST00000302539.8:c.4288G>A | ENSP00000303960.4:p.Val1430Ile | |
| ENST00000389817.7:c.4285G>A | ENSP00000374467.3:p.Val1429Ile | |
| ENST00000525022.1:n.284G>A | ||
| ENST00000526037.5:n.149G>A | ||
| ENST00000526168.5:c.73G>A | ||
| ENST00000531642.5:c.121G>A | ||
| NM_000352.4:c.4285G>A | NP_000343.2:p.Val1429Ile | |
| NM_001287174.1:c.4288G>A | NP_001274103.1:p.Val1430Ile | |
| XM_011520331.1:c.4285G>A | XP_011518633.1:p.Val1429Ile | |
| XM_011520332.1:c.4288G>A | XP_011518634.1:p.Val1430Ile | |
| XM_011520333.1:c.2785G>A | XP_011518635.1:p.Val929Ile | |
| XR_930890.1:n.4351G>A | ||
| NM_001351295.1:c.4351G>A | NP_001338224.1:p.Val1451Ile | |
| NM_001351296.1:c.4285G>A | NP_001338225.1:p.Val1429Ile | |
| NM_001351297.1:c.4282G>A | NP_001338226.1:p.Val1428Ile | |
| NR_147094.1:n.4580G>A | ||
| XM_017018197.2:c.4354G>A | XP_016873686.1:p.Val1452Ile | |
| XM_017018199.1:c.4351G>A | XP_016873688.1:p.Val1451Ile | |
| XM_017018201.2:c.4354G>A | XP_016873690.1:p.Val1452Ile | |
| XM_017018202.1:c.2851G>A | XP_016873691.1:p.Val951Ile | |
| XM_017018204.1:c.2242G>A | XP_016873693.1:p.Val748Ile | |
| XM_024448668.1:c.2653G>A | XP_024304436.1:p.Val885Ile | |
| XR_001747945.2:n.4426G>A | ||
| XR_001747946.2:n.4357G>A | ||
| XR_002957189.1:n.6140G>A | ||
| NM_000352.6:c.4285G>A MANE Select | NP_000343.2:p.Val1429Ile | |
| NM_001287174.2:c.4288G>A | NP_001274103.1:p.Val1430Ile | |
| NM_001351295.2:c.4351G>A | NP_001338224.1:p.Val1451Ile | |
| NM_001351296.2:c.4285G>A | NP_001338225.1:p.Val1429Ile | |
| NM_001351297.2:c.4282G>A | NP_001338226.1:p.Val1428Ile | |
| NR_147094.2:n.4580G>A | ||
| NM_001287174.3:c.4288G>A | NP_001274103.1:p.Val1430Ile |