Linked Data
ClinVar Variation Id:
139239
dbSNP Id:
rs116319889
ExAC:
16:89598356 C / T
gnomAD v2:
16-89598356-C-T
gnomAD v3:
16-89531948-C-T
gnomAD v4:
16-89531948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89531948C>T , CM000678.2:g.89531948C>T | GRCh38 |
| NC_000016.9:g.89598356C>T , CM000678.1:g.89598356C>T | GRCh37 |
| NC_000016.8:g.88125857C>T | NCBI36 |
| NG_008082.1:g.28552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1011C>T | ENSP00000268704.3:p.Gly337= | |
| ENST00000561945.2:n.177C>T | ||
| ENST00000564409.2:c.1088C>T | ENSP00000495297.1:n.1088C>T | |
| ENST00000566682.2:c.45C>T | ENSP00000461979.2:p.Gly15= | |
| ENST00000642334.1:c.905C>T | ||
| ENST00000642371.1:c.1111C>T | ||
| ENST00000642427.1:n.432C>T | ||
| ENST00000642436.1:n.389-8996C>T | ||
| ENST00000643105.1:c.952C>T | ||
| ENST00000643178.1:n.577C>T | ||
| ENST00000643307.1:c.1032C>T | ENSP00000495673.1:p.Gly344= | |
| ENST00000643345.1:c.*556C>T | ENSP00000493982.1:n.*556C>T | |
| ENST00000643370.1:c.325-515C>T | ENSP00000494895.1:n.325-515C>T | |
| ENST00000643496.1:n.849C>T | ||
| ENST00000643649.1:c.1032C>T | ENSP00000494806.1:p.Gly344= | |
| ENST00000643668.1:c.*1326C>T | ENSP00000494903.1:n.*1326C>T | |
| ENST00000643724.1:c.*497+1140C>T | ENSP00000496335.1:n.*497+1140C>T | |
| ENST00000643954.1:c.770C>T | ||
| ENST00000644171.1:n.1006C>T | ||
| ENST00000644210.1:c.1032C>T | ENSP00000495675.1:p.Gly344= | |
| ENST00000644225.1:n.1049C>T | ||
| ENST00000644498.1:c.1011C>T | ENSP00000496244.1:p.Gly337= | |
| ENST00000644671.1:c.689C>T | ||
| ENST00000644748.1:n.2463C>T | ||
| ENST00000644751.1:c.434C>T | ||
| ENST00000644781.1:c.1032C>T | ENSP00000495473.1:p.Gly344= | |
| ENST00000644901.1:c.*985C>T | ENSP00000493797.1:n.*985C>T | |
| ENST00000645042.1:c.1032C>T | ENSP00000493908.1:p.Gly344= | |
| ENST00000645063.1:c.1032C>T | ENSP00000493590.1:p.Gly344= | |
| ENST00000645354.1:c.1792C>T | ||
| ENST00000645533.1:c.*161C>T | ENSP00000495690.1:n.*161C>T | |
| ENST00000645818.2:c.1032C>T MANE Select | ENSP00000495795.2:p.Gly344= | |
| ENST00000645886.1:c.259C>T | ||
| ENST00000645897.1:c.987+1140C>T | ENSP00000495293.1:n.987+1140C>T | |
| ENST00000645977.1:n.2150C>T | ||
| ENST00000646263.1:c.1032C>T | ENSP00000494119.1:p.Gly344= | |
| ENST00000646303.1:c.900C>T | ENSP00000494160.1:p.Gly300= | |
| ENST00000646399.1:c.715C>T | ||
| ENST00000646445.1:c.183-12700C>T | ||
| ENST00000646454.1:n.710+991C>T | ||
| ENST00000646531.1:c.1032C>T | ENSP00000495185.1:p.Gly344= | |
| ENST00000646589.1:c.*160C>T | ENSP00000494739.1:n.*160C>T | |
| ENST00000646716.1:c.377-12700C>T | ENSP00000495593.1:n.377-12700C>T | |
| ENST00000646826.1:c.1032C>T | ENSP00000495123.1:p.Gly344= | |
| ENST00000646930.1:c.1032C>T | ENSP00000495219.1:p.Gly344= | |
| ENST00000646958.1:n.2077C>T | ||
| ENST00000647032.1:c.647C>T | ||
| ENST00000647079.1:c.624C>T | ENSP00000495967.1:p.Gly208= | |
| ENST00000647227.1:c.795C>T | ||
| ENST00000268704.6:c.1032C>T | ENSP00000268704.2:p.Gly344= | |
| ENST00000341316.6:c.1032C>T | ENSP00000341157.2:p.Gly344= | |
| ENST00000561945.1:n.76C>T | ||
| ENST00000564409.1:n.491C>T | ||
| ENST00000620811.4:c.-545C>T | ENSP00000478030.1:n.-545C>T | |
| NM_003119.3:c.1032C>T | NP_003110.1:p.Gly344= | |
| NM_199367.2:c.1032C>T | NP_955399.1:p.Gly344= | |
| XM_005256321.3:c.1032C>T | XP_005256378.1:p.Gly344= | |
| XM_006721264.2:c.1032C>T | XP_006721327.1:p.Gly344= | |
| XM_011523306.1:c.1032C>T | XP_011521608.1:p.Gly344= | |
| XM_011523307.1:c.1032C>T | XP_011521609.1:p.Gly344= | |
| NM_001363850.1:c.1032C>T | NP_001350779.1:p.Gly344= | |
| XM_005256321.4:c.1032C>T | XP_005256378.1:p.Gly344= | |
| XM_006721264.4:c.1032C>T | XP_006721327.1:p.Gly344= | |
| XM_017023597.1:c.1032C>T | XP_016879086.1:p.Gly344= | |
| XM_017023598.1:c.1032C>T | XP_016879087.1:p.Gly344= | |
| XR_001751971.2:n.1071C>T | ||
| XR_001751972.2:n.1071C>T | ||
| NM_003119.4:c.1032C>T MANE Select | NP_003110.1:p.Gly344= | |
| NM_199367.3:c.1032C>T | NP_955399.1:p.Gly344= |