Linked Data
ClinVar Variation Id:
139240
dbSNP Id:
rs202070075
ExAC:
16:89599054 C / T
gnomAD v2:
16-89599054-C-T
gnomAD v3:
16-89532646-C-T
gnomAD v4:
16-89532646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89532646C>T , CM000678.2:g.89532646C>T | GRCh38 |
| NC_000016.9:g.89599054C>T , CM000678.1:g.89599054C>T | GRCh37 |
| NC_000016.8:g.88126555C>T | NCBI36 |
| NG_008082.1:g.29250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1303+10C>T | ENSP00000268704.3:n.1303+10C>T | |
| ENST00000561945.2:n.469+10C>T | ||
| ENST00000566682.2:c.337+10C>T | ENSP00000461979.2:n.337+10C>T | |
| ENST00000567138.3:c.231C>T | ||
| ENST00000642263.1:n.75+10C>T | ||
| ENST00000642334.1:c.1197+10C>T | ||
| ENST00000642427.1:n.724+10C>T | ||
| ENST00000642436.1:n.389-8298C>T | ||
| ENST00000643105.1:c.1244+10C>T | ||
| ENST00000643307.1:c.1324+10C>T | ENSP00000495673.1:n.1324+10C>T | |
| ENST00000643345.1:c.*848+10C>T | ENSP00000493982.1:n.*848+10C>T | |
| ENST00000643370.1:c.498+10C>T | ENSP00000494895.1:n.498+10C>T | |
| ENST00000643496.1:n.1141+10C>T | ||
| ENST00000643649.1:c.1324+10C>T | ENSP00000494806.1:n.1324+10C>T | |
| ENST00000643668.1:c.*1618+10C>T | ENSP00000494903.1:n.*1618+10C>T | |
| ENST00000643724.1:c.*497+1838C>T | ENSP00000496335.1:n.*497+1838C>T | |
| ENST00000643954.1:c.1062+10C>T | ||
| ENST00000644044.1:c.102+10C>T | ||
| ENST00000644171.1:n.1298+10C>T | ||
| ENST00000644210.1:c.1324+10C>T | ENSP00000495675.1:n.1324+10C>T | |
| ENST00000644225.1:n.1341+10C>T | ||
| ENST00000644498.1:c.1303+10C>T | ENSP00000496244.1:n.1303+10C>T | |
| ENST00000644556.1:n.56+10C>T | ||
| ENST00000644671.1:c.981+10C>T | ||
| ENST00000644748.1:n.2755+10C>T | ||
| ENST00000644751.1:c.726+10C>T | ||
| ENST00000644781.1:c.1324+10C>T | ENSP00000495473.1:n.1324+10C>T | |
| ENST00000644901.1:c.*1277+10C>T | ENSP00000493797.1:n.*1277+10C>T | |
| ENST00000645042.1:c.1324+10C>T | ENSP00000493908.1:n.1324+10C>T | |
| ENST00000645063.1:c.1324+10C>T | ENSP00000493590.1:n.1324+10C>T | |
| ENST00000645258.1:c.255+10C>T | ||
| ENST00000645354.1:c.2084+10C>T | ||
| ENST00000645818.2:c.1324+10C>T MANE Select | ENSP00000495795.2:n.1324+10C>T | |
| ENST00000645886.1:c.551+10C>T | ||
| ENST00000645897.1:c.987+1838C>T | ENSP00000495293.1:n.987+1838C>T | |
| ENST00000645977.1:n.2442+10C>T | ||
| ENST00000646263.1:c.1324+10C>T | ENSP00000494119.1:n.1324+10C>T | |
| ENST00000646303.1:c.1192+10C>T | ENSP00000494160.1:n.1192+10C>T | |
| ENST00000646399.1:c.1007+10C>T | ||
| ENST00000646445.1:c.183-12002C>T | ||
| ENST00000646454.1:n.710+1689C>T | ||
| ENST00000646531.1:c.1324+10C>T | ENSP00000495185.1:n.1324+10C>T | |
| ENST00000646589.1:c.*452+10C>T | ENSP00000494739.1:n.*452+10C>T | |
| ENST00000646716.1:c.377-12002C>T | ENSP00000495593.1:n.377-12002C>T | |
| ENST00000646826.1:c.1324+10C>T | ENSP00000495123.1:n.1324+10C>T | |
| ENST00000646930.1:c.1324+10C>T | ENSP00000495219.1:n.1324+10C>T | |
| ENST00000646958.1:n.2369+10C>T | ||
| ENST00000647032.1:c.939+10C>T | ||
| ENST00000647079.1:c.916+10C>T | ENSP00000495967.1:n.916+10C>T | |
| ENST00000647227.1:c.1087+10C>T | ||
| ENST00000268704.6:c.1324+10C>T | ENSP00000268704.2:n.1324+10C>T | |
| ENST00000341316.6:c.1324+10C>T | ENSP00000341157.2:n.1324+10C>T | |
| ENST00000561945.1:n.368+10C>T | ||
| ENST00000563218.5:n.50+10C>T | ||
| ENST00000567138.2:c.216C>T | ||
| ENST00000620811.4:c.-253+10C>T | ENSP00000478030.1:n.-253+10C>T | |
| NM_003119.3:c.1324+10C>T | NP_003110.1:n.1324+10C>T | |
| NM_199367.2:c.1324+10C>T | NP_955399.1:n.1324+10C>T | |
| XM_005256321.3:c.1324+10C>T | XP_005256378.1:n.1324+10C>T | |
| XM_006721264.2:c.1324+10C>T | XP_006721327.1:n.1324+10C>T | |
| XM_011523306.1:c.1324+10C>T | XP_011521608.1:n.1324+10C>T | |
| XM_011523307.1:c.1324+10C>T | XP_011521609.1:n.1324+10C>T | |
| NM_001363850.1:c.1324+10C>T | NP_001350779.1:n.1324+10C>T | |
| XM_005256321.4:c.1324+10C>T | XP_005256378.1:n.1324+10C>T | |
| XM_006721264.4:c.1324+10C>T | XP_006721327.1:n.1324+10C>T | |
| XM_017023597.1:c.1324+10C>T | XP_016879086.1:n.1324+10C>T | |
| XM_017023598.1:c.1324+10C>T | XP_016879087.1:n.1324+10C>T | |
| XR_001751971.2:n.1363+10C>T | ||
| XR_001751972.2:n.1363+10C>T | ||
| NM_003119.4:c.1324+10C>T MANE Select | NP_003110.1:n.1324+10C>T | |
| NM_199367.3:c.1324+10C>T | NP_955399.1:n.1324+10C>T |