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:
2783339
ClinVar RCV Id:
RCV003665993
dbSNP Id:
rs1193568442
gnomAD v2:
11-17417454-G-T
gnomAD v4:
11-17395907-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395907G>T , CM000673.2:g.17395907G>T | GRCh38 |
| NC_000011.9:g.17417454G>T , CM000673.1:g.17417454G>T | GRCh37 |
| NC_000011.8:g.17374030G>T | NCBI36 |
| NG_008867.1:g.85996C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3744C>A | ||
| ENST00000528374.2:c.734C>A | ||
| ENST00000529967.6:n.2482C>A | ||
| ENST00000532220.2:n.3376C>A | ||
| ENST00000642611.2:n.5343C>A | ||
| ENST00000644057.2:n.586C>A | ||
| ENST00000645004.2:n.1642C>A | ||
| ENST00000682051.1:n.4305C>A | ||
| ENST00000682110.1:n.4358C>A | ||
| ENST00000682140.1:c.4009C>A | ENSP00000507829.1:p.Gln1337Lys | |
| ENST00000682185.1:n.5448C>A | ||
| ENST00000682204.1:c.*2281C>A | ENSP00000507094.1:n.*2281C>A | |
| ENST00000682215.1:n.4725C>A | ||
| ENST00000682288.1:c.*2574C>A | ENSP00000507506.1:n.*2574C>A | |
| ENST00000682442.1:n.4578C>A | ||
| ENST00000682528.1:n.4435C>A | ||
| ENST00000682673.1:n.4302C>A | ||
| ENST00000682805.1:n.4763C>A | ||
| ENST00000682965.1:c.*565C>A | ENSP00000508229.1:n.*565C>A | |
| ENST00000683093.1:n.5442C>A | ||
| ENST00000683136.1:c.4026C>A | ENSP00000507768.1:p.Gly1342= | |
| ENST00000683153.1:n.4400C>A | ||
| ENST00000683365.1:n.4460C>A | ||
| ENST00000683377.1:n.4358C>A | ||
| ENST00000683456.1:c.*1280C>A | ENSP00000508318.1:n.*1280C>A | |
| ENST00000683522.1:n.4358C>A | ||
| ENST00000683562.1:c.*2312C>A | ENSP00000508265.1:n.*2312C>A | |
| ENST00000683693.1:n.5790C>A | ||
| ENST00000683725.1:c.4143C>A | ENSP00000507496.1:p.Gly1381= | |
| ENST00000684010.1:n.4353C>A | ||
| ENST00000684157.1:n.5343C>A | ||
| ENST00000684253.1:n.4261C>A | ||
| ENST00000684288.1:c.*2315C>A | ENSP00000507143.1:n.*2315C>A | |
| ENST00000684313.1:n.3790C>A | ||
| ENST00000684332.1:n.4431C>A | ||
| ENST00000684371.1:n.4464C>A | ||
| ENST00000684404.1:n.5386C>A | ||
| ENST00000684442.1:n.4582C>A | ||
| ENST00000684555.1:c.*2355C>A | ENSP00000507705.1:n.*2355C>A | |
| ENST00000684571.1:c.3984C>A | ENSP00000506935.1:p.Gly1328= | |
| ENST00000684593.1:c.*3848C>A | ENSP00000507005.1:n.*3848C>A | |
| ENST00000684711.1:c.*2539C>A | ENSP00000506841.1:n.*2539C>A | |
| ENST00000302539.9:c.4146C>A | ENSP00000303960.4:p.Gly1382= | |
| ENST00000389817.8:c.4143C>A MANE Select | ENSP00000374467.4:p.Gly1381= | |
| ENST00000642271.1:c.4140C>A | ENSP00000493749.1:p.Gly1380= | |
| ENST00000642579.1:c.2197C>A | ||
| ENST00000642611.1:n.5228C>A | ||
| ENST00000642902.1:c.3925C>A | ||
| ENST00000643260.1:c.4143C>A | ENSP00000494450.1:p.Gly1381= | |
| ENST00000643562.1:c.*2265C>A | ENSP00000496124.1:n.*2265C>A | |
| ENST00000643925.1:c.2783C>A | ||
| ENST00000644057.1:n.220C>A | ||
| ENST00000644484.1:c.*3529C>A | ENSP00000493558.1:n.*3529C>A | |
| ENST00000644675.1:c.*2315C>A | ENSP00000494567.1:n.*2315C>A | |
| ENST00000644757.1:c.*3202+357C>A | ENSP00000495085.1:n.*3202+357C>A | |
| ENST00000644772.1:c.4209C>A | ENSP00000494321.1:p.Gly1403= | |
| ENST00000645004.1:n.1836C>A | ||
| ENST00000645076.1:c.3342C>A | ||
| ENST00000645417.1:c.1331C>A | ||
| ENST00000645744.1:c.*3908C>A | ENSP00000494564.1:n.*3908C>A | |
| ENST00000645760.1:c.4564C>A | ||
| ENST00000645884.1:c.*1426C>A | ENSP00000495516.1:n.*1426C>A | |
| ENST00000646003.1:c.*2245C>A | ENSP00000495259.1:n.*2245C>A | |
| ENST00000646207.1:c.*2980C>A | ENSP00000495025.1:n.*2980C>A | |
| ENST00000646276.1:c.*3547C>A | ENSP00000496070.1:n.*3547C>A | |
| ENST00000646592.1:c.3449C>A | ||
| ENST00000646902.1:c.4110C>A | ENSP00000494101.1:p.Gly1370= | |
| ENST00000646993.1:c.*2685C>A | ENSP00000493720.1:n.*2685C>A | |
| ENST00000647013.1:c.4149C>A | ENSP00000496741.1:n.4149C>A | |
| ENST00000647015.1:c.3894C>A | ENSP00000495389.1:p.Gly1298= | |
| ENST00000647086.1:c.*3729C>A | ENSP00000493677.1:n.*3729C>A | |
| ENST00000647158.1:c.*2430C>A | ENSP00000495744.1:n.*2430C>A | |
| ENST00000302539.8:c.4146C>A | ENSP00000303960.4:p.Gly1382= | |
| ENST00000389817.7:c.4143C>A | ENSP00000374467.3:p.Gly1381= | |
| ENST00000525022.1:n.9C>A | ||
| ENST00000526168.5:c.11C>A | ||
| NM_000352.4:c.4143C>A | NP_000343.2:p.Gly1381= | |
| NM_001287174.1:c.4146C>A | NP_001274103.1:p.Gly1382= | |
| XM_011520331.1:c.4143C>A | XP_011518633.1:p.Gly1381= | |
| XM_011520332.1:c.4146C>A | XP_011518634.1:p.Gly1382= | |
| XM_011520333.1:c.2643C>A | XP_011518635.1:p.Gly881= | |
| XR_930890.1:n.4209C>A | ||
| NM_001351295.1:c.4209C>A | NP_001338224.1:p.Gly1403= | |
| NM_001351296.1:c.4143C>A | NP_001338225.1:p.Gly1381= | |
| NM_001351297.1:c.4140C>A | NP_001338226.1:p.Gly1380= | |
| NR_147094.1:n.4438C>A | ||
| XM_017018197.2:c.4212C>A | XP_016873686.1:p.Gly1404= | |
| XM_017018199.1:c.4209C>A | XP_016873688.1:p.Gly1403= | |
| XM_017018201.2:c.4212C>A | XP_016873690.1:p.Gly1404= | |
| XM_017018202.1:c.2709C>A | XP_016873691.1:p.Gly903= | |
| XM_017018204.1:c.2100C>A | XP_016873693.1:p.Gly700= | |
| XM_024448668.1:c.2511C>A | XP_024304436.1:p.Gly837= | |
| XR_001747945.2:n.4284C>A | ||
| XR_001747946.2:n.4215C>A | ||
| XR_002957189.1:n.5865C>A | ||
| NM_000352.6:c.4143C>A MANE Select | NP_000343.2:p.Gly1381= | |
| NM_001287174.2:c.4146C>A | NP_001274103.1:p.Gly1382= | |
| NM_001351295.2:c.4209C>A | NP_001338224.1:p.Gly1403= | |
| NM_001351296.2:c.4143C>A | NP_001338225.1:p.Gly1381= | |
| NM_001351297.2:c.4140C>A | NP_001338226.1:p.Gly1380= | |
| NR_147094.2:n.4438C>A | ||
| NM_001287174.3:c.4146C>A | NP_001274103.1:p.Gly1382= |