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:
157703
dbSNP Id:
rs145673861
ExAC:
11:17415927 G / A
gnomAD v2:
11-17415927-G-A
gnomAD v3:
11-17394380-G-A
gnomAD v4:
11-17394380-G-A
COSMIC:
COSM3415723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394380G>A , CM000673.2:g.17394380G>A | GRCh38 |
| NC_000011.9:g.17415927G>A , CM000673.1:g.17415927G>A | GRCh37 |
| NC_000011.8:g.17372503G>A | NCBI36 |
| NG_008867.1:g.87523C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4032C>T | ||
| ENST00000526037.6:n.366C>T | ||
| ENST00000528374.2:c.1022C>T | ||
| ENST00000529967.6:n.2770C>T | ||
| ENST00000532220.2:n.3664C>T | ||
| ENST00000642611.2:n.5764C>T | ||
| ENST00000644057.2:n.1007C>T | ||
| ENST00000645004.2:n.1930C>T | ||
| ENST00000682051.1:n.4593C>T | ||
| ENST00000682110.1:n.4646C>T | ||
| ENST00000682140.1:c.*217C>T | ENSP00000507829.1:n.*217C>T | |
| ENST00000682185.1:n.5736C>T | ||
| ENST00000682204.1:c.*2569C>T | ENSP00000507094.1:n.*2569C>T | |
| ENST00000682215.1:n.5013C>T | ||
| ENST00000682288.1:c.*2862C>T | ENSP00000507506.1:n.*2862C>T | |
| ENST00000682442.1:n.4866C>T | ||
| ENST00000682528.1:n.4723C>T | ||
| ENST00000682673.1:n.4590C>T | ||
| ENST00000682805.1:n.5051C>T | ||
| ENST00000682965.1:c.*853C>T | ENSP00000508229.1:n.*853C>T | |
| ENST00000683093.1:n.5626C>T | ||
| ENST00000683136.1:c.4314C>T | ENSP00000507768.1:p.Gly1438= | |
| ENST00000683153.1:n.4688C>T | ||
| ENST00000683365.1:n.4748C>T | ||
| ENST00000683377.1:n.4542C>T | ||
| ENST00000683456.1:c.*1568C>T | ENSP00000508318.1:n.*1568C>T | |
| ENST00000683522.1:n.4728C>T | ||
| ENST00000683562.1:c.*2496C>T | ENSP00000508265.1:n.*2496C>T | |
| ENST00000683693.1:n.6107C>T | ||
| ENST00000683725.1:c.4327C>T | ENSP00000507496.1:p.Arg1443Trp | |
| ENST00000684010.1:n.4641C>T | ||
| ENST00000684014.1:n.618C>T | ||
| ENST00000684157.1:n.5631C>T | ||
| ENST00000684253.1:n.4549C>T | ||
| ENST00000684288.1:c.*2603C>T | ENSP00000507143.1:n.*2603C>T | |
| ENST00000684313.1:n.4078C>T | ||
| ENST00000684332.1:n.4719C>T | ||
| ENST00000684371.1:n.4752C>T | ||
| ENST00000684404.1:n.5674C>T | ||
| ENST00000684442.1:n.4870C>T | ||
| ENST00000684555.1:c.*2643C>T | ENSP00000507705.1:n.*2643C>T | |
| ENST00000684571.1:c.4272C>T | ENSP00000506935.1:p.Gly1424= | |
| ENST00000684593.1:c.*4136C>T | ENSP00000507005.1:n.*4136C>T | |
| ENST00000684711.1:c.*2827C>T | ENSP00000506841.1:n.*2827C>T | |
| ENST00000302539.9:c.4434C>T | ENSP00000303960.4:p.Gly1478= | |
| ENST00000389817.8:c.4431C>T MANE Select | ENSP00000374467.4:p.Gly1477= | |
| ENST00000642271.1:c.4428C>T | ENSP00000493749.1:p.Gly1476= | |
| ENST00000642579.1:c.2485C>T | ||
| ENST00000642611.1:n.5649C>T | ||
| ENST00000642902.1:c.4213C>T | ||
| ENST00000643260.1:c.4431C>T | ENSP00000494450.1:p.Gly1477= | |
| ENST00000643562.1:c.*2553C>T | ENSP00000496124.1:n.*2553C>T | |
| ENST00000643925.1:c.3071C>T | ||
| ENST00000644057.1:n.590C>T | ||
| ENST00000644484.1:c.*3817C>T | ENSP00000493558.1:n.*3817C>T | |
| ENST00000644675.1:c.*2603C>T | ENSP00000494567.1:n.*2603C>T | |
| ENST00000644757.1:c.*3203-1400C>T | ENSP00000495085.1:n.*3203-1400C>T | |
| ENST00000644772.1:c.4497C>T | ENSP00000494321.1:p.Gly1499= | |
| ENST00000645004.1:n.2124C>T | ||
| ENST00000645076.1:c.3526C>T | ||
| ENST00000645417.1:c.1619C>T | ||
| ENST00000645744.1:c.*4116C>T | ENSP00000494564.1:n.*4116C>T | |
| ENST00000645760.1:c.4852C>T | ||
| ENST00000645884.1:c.*1714C>T | ENSP00000495516.1:n.*1714C>T | |
| ENST00000646003.1:c.*2453C>T | ENSP00000495259.1:n.*2453C>T | |
| ENST00000646207.1:c.*3268C>T | ENSP00000495025.1:n.*3268C>T | |
| ENST00000646276.1:c.*3835C>T | ENSP00000496070.1:n.*3835C>T | |
| ENST00000646592.1:c.3737C>T | ||
| ENST00000646902.1:c.4398C>T | ENSP00000494101.1:p.Gly1466= | |
| ENST00000646993.1:c.*2869C>T | ENSP00000493720.1:n.*2869C>T | |
| ENST00000647013.1:c.4437C>T | ENSP00000496741.1:n.4437C>T | |
| ENST00000647015.1:c.4182C>T | ENSP00000495389.1:p.Gly1394= | |
| ENST00000647086.1:c.*4017C>T | ENSP00000493677.1:n.*4017C>T | |
| ENST00000647158.1:c.*2718C>T | ENSP00000495744.1:n.*2718C>T | |
| ENST00000302539.8:c.4434C>T | ENSP00000303960.4:p.Gly1478= | |
| ENST00000389817.7:c.4431C>T | ENSP00000374467.3:p.Gly1477= | |
| ENST00000525022.1:n.326C>T | ||
| ENST00000526037.5:n.191C>T | ||
| ENST00000526168.5:c.219C>T | ||
| ENST00000531642.5:c.462C>T | ||
| NM_000352.4:c.4431C>T | NP_000343.2:p.Gly1477= | |
| NM_001287174.1:c.4434C>T | NP_001274103.1:p.Gly1478= | |
| XM_011520331.1:c.4431C>T | XP_011518633.1:p.Gly1477= | |
| XM_011520332.1:c.4330C>T | XP_011518634.1:p.Arg1444Trp | |
| XM_011520333.1:c.2931C>T | XP_011518635.1:p.Gly977= | |
| XR_930890.1:n.4393C>T | ||
| NM_001351295.1:c.4497C>T | NP_001338224.1:p.Gly1499= | |
| NM_001351296.1:c.4431C>T | NP_001338225.1:p.Gly1477= | |
| NM_001351297.1:c.4428C>T | NP_001338226.1:p.Gly1476= | |
| NR_147094.1:n.4726C>T | ||
| XM_017018197.2:c.4500C>T | XP_016873686.1:p.Gly1500= | |
| XM_017018199.1:c.4497C>T | XP_016873688.1:p.Gly1499= | |
| XM_017018201.2:c.4396C>T | XP_016873690.1:p.Arg1466Trp | |
| XM_017018202.1:c.2997C>T | XP_016873691.1:p.Gly999= | |
| XM_017018204.1:c.2388C>T | XP_016873693.1:p.Gly796= | |
| XM_024448668.1:c.2799C>T | XP_024304436.1:p.Gly933= | |
| XR_001747945.2:n.4468C>T | ||
| XR_001747946.2:n.4399C>T | ||
| XR_002957189.1:n.6182C>T | ||
| NM_000352.6:c.4431C>T MANE Select | NP_000343.2:p.Gly1477= | |
| NM_001287174.2:c.4434C>T | NP_001274103.1:p.Gly1478= | |
| NM_001351295.2:c.4497C>T | NP_001338224.1:p.Gly1499= | |
| NM_001351296.2:c.4431C>T | NP_001338225.1:p.Gly1477= | |
| NM_001351297.2:c.4428C>T | NP_001338226.1:p.Gly1476= | |
| NR_147094.2:n.4726C>T | ||
| NM_001287174.3:c.4434C>T | NP_001274103.1:p.Gly1478= |