Linked Data
ClinVar Variation Id:
321278
ClinVar RCV Id:
RCV000396965
dbSNP Id:
rs574361328
ExAC:
16:89590669 C / T
gnomAD v2:
16-89590669-C-T
gnomAD v3:
16-89524261-C-T
gnomAD v4:
16-89524261-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89524261C>T , CM000678.2:g.89524261C>T | GRCh38 |
| NC_000016.9:g.89590669C>T , CM000678.1:g.89590669C>T | GRCh37 |
| NC_000016.8:g.88118170C>T | NCBI36 |
| NG_008082.1:g.20865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.618+14C>T | ENSP00000268704.3:n.618+14C>T | |
| ENST00000562775.2:n.482+14C>T | ||
| ENST00000564047.2:n.627+14C>T | ||
| ENST00000564409.2:c.387+14C>T | ENSP00000495297.1:n.387+14C>T | |
| ENST00000566371.6:c.618+14C>T | ENSP00000454475.2:n.618+14C>T | |
| ENST00000642334.1:c.491+14C>T | ||
| ENST00000642371.1:c.550+14C>T | ||
| ENST00000642427.1:n.18+14C>T | ||
| ENST00000642436.1:n.388+11224C>T | ||
| ENST00000643105.1:c.538+14C>T | ||
| ENST00000643178.1:n.266+14C>T | ||
| ENST00000643307.1:c.618+14C>T | ENSP00000495673.1:n.618+14C>T | |
| ENST00000643345.1:c.377-4874C>T | ENSP00000493982.1:n.377-4874C>T | |
| ENST00000643496.1:n.435+14C>T | ||
| ENST00000643649.1:c.618+14C>T | ENSP00000494806.1:n.618+14C>T | |
| ENST00000643668.1:c.*646+14C>T | ENSP00000494903.1:n.*646+14C>T | |
| ENST00000643724.1:c.618+14C>T | ENSP00000496335.1:n.618+14C>T | |
| ENST00000643954.1:c.356+14C>T | ||
| ENST00000643957.1:c.779+14C>T | ENSP00000494246.1:n.779+14C>T | |
| ENST00000644210.1:c.618+14C>T | ENSP00000495675.1:n.618+14C>T | |
| ENST00000644225.1:n.635+14C>T | ||
| ENST00000644498.1:c.618+14C>T | ENSP00000496244.1:n.618+14C>T | |
| ENST00000644671.1:c.281+14C>T | ||
| ENST00000644748.1:n.2049+14C>T | ||
| ENST00000644751.1:c.20+14C>T | ||
| ENST00000644781.1:c.618+14C>T | ENSP00000495473.1:n.618+14C>T | |
| ENST00000644901.1:c.618+14C>T | ENSP00000493797.1:n.618+14C>T | |
| ENST00000645042.1:c.618+14C>T | ENSP00000493908.1:n.618+14C>T | |
| ENST00000645063.1:c.618+14C>T | ENSP00000493590.1:n.618+14C>T | |
| ENST00000645354.1:c.533+14C>T | ||
| ENST00000645533.1:c.618+14C>T | ENSP00000495690.1:n.618+14C>T | |
| ENST00000645818.2:c.618+14C>T MANE Select | ENSP00000495795.2:n.618+14C>T | |
| ENST00000645897.1:c.618+14C>T | ENSP00000495293.1:n.618+14C>T | |
| ENST00000645977.1:n.633+14C>T | ||
| ENST00000646263.1:c.618+14C>T | ENSP00000494119.1:n.618+14C>T | |
| ENST00000646303.1:c.486+14C>T | ENSP00000494160.1:n.486+14C>T | |
| ENST00000646399.1:c.301+14C>T | ||
| ENST00000646445.1:c.182+11224C>T | ||
| ENST00000646531.1:c.618+14C>T | ENSP00000495185.1:n.618+14C>T | |
| ENST00000646589.1:c.377-6422C>T | ENSP00000494739.1:n.377-6422C>T | |
| ENST00000646716.1:c.376+11224C>T | ENSP00000495593.1:n.376+11224C>T | |
| ENST00000646826.1:c.618+14C>T | ENSP00000495123.1:n.618+14C>T | |
| ENST00000646930.1:c.618+14C>T | ENSP00000495219.1:n.618+14C>T | |
| ENST00000646958.1:n.568+14C>T | ||
| ENST00000647032.1:c.233+14C>T | ||
| ENST00000647079.1:c.210+14C>T | ENSP00000495967.1:n.210+14C>T | |
| ENST00000647227.1:c.381+14C>T | ||
| ENST00000268704.6:c.618+14C>T | ENSP00000268704.2:n.618+14C>T | |
| ENST00000341316.6:c.618+14C>T | ENSP00000341157.2:n.618+14C>T | |
| ENST00000562775.1:n.1528+14C>T | ||
| ENST00000564047.1:n.44+14C>T | ||
| ENST00000620811.4:c.-959+14C>T | ENSP00000478030.1:n.-959+14C>T | |
| NM_003119.3:c.618+14C>T | NP_003110.1:n.618+14C>T | |
| NM_199367.2:c.618+14C>T | NP_955399.1:n.618+14C>T | |
| XM_005256321.3:c.618+14C>T | XP_005256378.1:n.618+14C>T | |
| XM_006721264.2:c.618+14C>T | XP_006721327.1:n.618+14C>T | |
| XM_011523306.1:c.618+14C>T | XP_011521608.1:n.618+14C>T | |
| XM_011523307.1:c.618+14C>T | XP_011521609.1:n.618+14C>T | |
| NM_001363850.1:c.618+14C>T | NP_001350779.1:n.618+14C>T | |
| XM_005256321.4:c.618+14C>T | XP_005256378.1:n.618+14C>T | |
| XM_006721264.4:c.618+14C>T | XP_006721327.1:n.618+14C>T | |
| XM_017023597.1:c.618+14C>T | XP_016879086.1:n.618+14C>T | |
| XM_017023598.1:c.618+14C>T | XP_016879087.1:n.618+14C>T | |
| XR_001751971.2:n.657+14C>T | ||
| XR_001751972.2:n.657+14C>T | ||
| NM_003119.4:c.618+14C>T MANE Select | NP_003110.1:n.618+14C>T | |
| NM_199367.3:c.618+14C>T | NP_955399.1:n.618+14C>T |