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:
303749
dbSNP Id:
rs780203284
ExAC:
11:17415247 G / A
gnomAD v2:
11-17415247-G-A
gnomAD v3:
11-17393700-G-A
gnomAD v4:
11-17393700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393700G>A , CM000673.2:g.17393700G>A | GRCh38 |
| NC_000011.9:g.17415247G>A , CM000673.1:g.17415247G>A | GRCh37 |
| NC_000011.8:g.17371823G>A | NCBI36 |
| NG_008867.1:g.88203C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4206C>T | ||
| ENST00000526037.6:n.540C>T | ||
| ENST00000528374.2:c.1196C>T | ||
| ENST00000529967.6:n.2944C>T | ||
| ENST00000532220.2:n.3838C>T | ||
| ENST00000642611.2:n.5938C>T | ||
| ENST00000644057.2:n.1181C>T | ||
| ENST00000645004.2:n.2104C>T | ||
| ENST00000682051.1:n.4767C>T | ||
| ENST00000682110.1:n.4820C>T | ||
| ENST00000682140.1:c.*391C>T | ENSP00000507829.1:n.*391C>T | |
| ENST00000682185.1:n.5910C>T | ||
| ENST00000682204.1:c.*2743C>T | ENSP00000507094.1:n.*2743C>T | |
| ENST00000682215.1:n.5187C>T | ||
| ENST00000682288.1:c.*3036C>T | ENSP00000507506.1:n.*3036C>T | |
| ENST00000682442.1:n.5040C>T | ||
| ENST00000682528.1:n.4897C>T | ||
| ENST00000682673.1:n.4764C>T | ||
| ENST00000682805.1:n.5225C>T | ||
| ENST00000682965.1:c.*1027C>T | ENSP00000508229.1:n.*1027C>T | |
| ENST00000683093.1:n.5800C>T | ||
| ENST00000683136.1:c.4488C>T | ENSP00000507768.1:p.Ile1496= | |
| ENST00000683153.1:n.4862C>T | ||
| ENST00000683365.1:n.4922C>T | ||
| ENST00000683377.1:n.4716C>T | ||
| ENST00000683456.1:c.*1742C>T | ENSP00000508318.1:n.*1742C>T | |
| ENST00000683522.1:n.4902C>T | ||
| ENST00000683562.1:c.*2670C>T | ENSP00000508265.1:n.*2670C>T | |
| ENST00000683693.1:n.6281C>T | ||
| ENST00000683725.1:c.*70C>T | ENSP00000507496.1:n.*70C>T | |
| ENST00000684010.1:n.4815C>T | ||
| ENST00000684014.1:n.792C>T | ||
| ENST00000684157.1:n.5805C>T | ||
| ENST00000684253.1:n.4723C>T | ||
| ENST00000684288.1:c.*2777C>T | ENSP00000507143.1:n.*2777C>T | |
| ENST00000684313.1:n.4252C>T | ||
| ENST00000684332.1:n.4893C>T | ||
| ENST00000684371.1:n.4926C>T | ||
| ENST00000684404.1:n.5848C>T | ||
| ENST00000684442.1:n.5044C>T | ||
| ENST00000684555.1:c.*2817C>T | ENSP00000507705.1:n.*2817C>T | |
| ENST00000684571.1:c.4446C>T | ENSP00000506935.1:p.Ile1482= | |
| ENST00000684593.1:c.*4310C>T | ENSP00000507005.1:n.*4310C>T | |
| ENST00000684711.1:c.*3001C>T | ENSP00000506841.1:n.*3001C>T | |
| ENST00000302539.9:c.4608C>T | ENSP00000303960.4:p.Ile1536= | |
| ENST00000389817.8:c.4605C>T MANE Select | ENSP00000374467.4:p.Ile1535= | |
| ENST00000642271.1:c.4602C>T | ENSP00000493749.1:p.Ile1534= | |
| ENST00000642579.1:c.2659C>T | ||
| ENST00000642611.1:n.5823C>T | ||
| ENST00000642902.1:c.4387C>T | ||
| ENST00000643260.1:c.4605C>T | ENSP00000494450.1:p.Ile1535= | |
| ENST00000643562.1:c.*2727C>T | ENSP00000496124.1:n.*2727C>T | |
| ENST00000643925.1:c.3185+566C>T | ||
| ENST00000644057.1:n.764C>T | ||
| ENST00000644484.1:c.*3991C>T | ENSP00000493558.1:n.*3991C>T | |
| ENST00000644675.1:c.*2777C>T | ENSP00000494567.1:n.*2777C>T | |
| ENST00000644757.1:c.*3203-720C>T | ENSP00000495085.1:n.*3203-720C>T | |
| ENST00000644772.1:c.4671C>T | ENSP00000494321.1:p.Ile1557= | |
| ENST00000645004.1:n.2298C>T | ||
| ENST00000645076.1:c.3700C>T | ||
| ENST00000645417.1:c.1793C>T | ||
| ENST00000645744.1:c.*4290C>T | ENSP00000494564.1:n.*4290C>T | |
| ENST00000645760.1:c.5026C>T | ||
| ENST00000645884.1:c.*1888C>T | ENSP00000495516.1:n.*1888C>T | |
| ENST00000646003.1:c.*2627C>T | ENSP00000495259.1:n.*2627C>T | |
| ENST00000646207.1:c.*3442C>T | ENSP00000495025.1:n.*3442C>T | |
| ENST00000646276.1:c.*4009C>T | ENSP00000496070.1:n.*4009C>T | |
| ENST00000646592.1:c.3911C>T | ||
| ENST00000646902.1:c.4572C>T | ENSP00000494101.1:p.Ile1524= | |
| ENST00000646993.1:c.*3043C>T | ENSP00000493720.1:n.*3043C>T | |
| ENST00000647015.1:c.4356C>T | ENSP00000495389.1:p.Ile1452= | |
| ENST00000647086.1:c.*4191C>T | ENSP00000493677.1:n.*4191C>T | |
| ENST00000647158.1:c.*2892C>T | ENSP00000495744.1:n.*2892C>T | |
| ENST00000302539.8:c.4608C>T | ENSP00000303960.4:p.Ile1536= | |
| ENST00000389817.7:c.4605C>T | ENSP00000374467.3:p.Ile1535= | |
| ENST00000525022.1:n.500C>T | ||
| ENST00000526037.5:n.365C>T | ||
| ENST00000526168.5:c.393C>T | ||
| ENST00000531642.5:c.636C>T | ||
| NM_000352.4:c.4605C>T | NP_000343.2:p.Ile1535= | |
| NM_001287174.1:c.4608C>T | NP_001274103.1:p.Ile1536= | |
| XM_011520331.1:c.4605C>T | XP_011518633.1:p.Ile1535= | |
| XM_011520333.1:c.3105C>T | XP_011518635.1:p.Ile1035= | |
| XR_930890.1:n.4567C>T | ||
| NM_001351295.1:c.4671C>T | NP_001338224.1:p.Ile1557= | |
| NM_001351296.1:c.4605C>T | NP_001338225.1:p.Ile1535= | |
| NM_001351297.1:c.4602C>T | NP_001338226.1:p.Ile1534= | |
| NR_147094.1:n.4900C>T | ||
| XM_017018197.2:c.4674C>T | XP_016873686.1:p.Ile1558= | |
| XM_017018199.1:c.4671C>T | XP_016873688.1:p.Ile1557= | |
| XM_017018202.1:c.3171C>T | XP_016873691.1:p.Ile1057= | |
| XM_017018204.1:c.2562C>T | XP_016873693.1:p.Ile854= | |
| XM_024448668.1:c.2973C>T | XP_024304436.1:p.Ile991= | |
| XR_001747945.2:n.4642C>T | ||
| XR_001747946.2:n.4573C>T | ||
| XR_002957189.1:n.6356C>T | ||
| NM_000352.6:c.4605C>T MANE Select | NP_000343.2:p.Ile1535= | |
| NM_001287174.2:c.4608C>T | NP_001274103.1:p.Ile1536= | |
| NM_001351295.2:c.4671C>T | NP_001338224.1:p.Ile1557= | |
| NM_001351296.2:c.4605C>T | NP_001338225.1:p.Ile1535= | |
| NM_001351297.2:c.4602C>T | NP_001338226.1:p.Ile1534= | |
| NR_147094.2:n.4900C>T | ||
| NM_001287174.3:c.4608C>T | NP_001274103.1:p.Ile1536= |