Linked Data
ClinVar Variation Id:
533740
dbSNP Id:
rs200402056
ExAC:
16:89598863 C / T
gnomAD v2:
16-89598863-C-T
gnomAD v3:
16-89532455-C-T
gnomAD v4:
16-89532455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89532455C>T , CM000678.2:g.89532455C>T | GRCh38 |
| NC_000016.9:g.89598863C>T , CM000678.1:g.89598863C>T | GRCh37 |
| NC_000016.8:g.88126364C>T | NCBI36 |
| NG_008082.1:g.29059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1130-8C>T | ENSP00000268704.3:n.1130-8C>T | |
| ENST00000561945.2:n.296-8C>T | ||
| ENST00000564409.2:c.1207-8C>T | ENSP00000495297.1:n.1207-8C>T | |
| ENST00000566682.2:c.164-8C>T | ENSP00000461979.2:n.164-8C>T | |
| ENST00000567138.3:c.48-8C>T | ||
| ENST00000642334.1:c.1024-8C>T | ||
| ENST00000642371.1:c.1230-8C>T | ||
| ENST00000642427.1:n.551-8C>T | ||
| ENST00000642436.1:n.389-8489C>T | ||
| ENST00000643105.1:c.1071-8C>T | ||
| ENST00000643307.1:c.1151-8C>T | ENSP00000495673.1:n.1151-8C>T | |
| ENST00000643345.1:c.*675-8C>T | ENSP00000493982.1:n.*675-8C>T | |
| ENST00000643370.1:c.325-8C>T | ENSP00000494895.1:n.325-8C>T | |
| ENST00000643496.1:n.968-8C>T | ||
| ENST00000643649.1:c.1151-8C>T | ENSP00000494806.1:n.1151-8C>T | |
| ENST00000643668.1:c.*1445-8C>T | ENSP00000494903.1:n.*1445-8C>T | |
| ENST00000643724.1:c.*497+1647C>T | ENSP00000496335.1:n.*497+1647C>T | |
| ENST00000643954.1:c.889-8C>T | ||
| ENST00000644171.1:n.1125-8C>T | ||
| ENST00000644210.1:c.1151-8C>T | ENSP00000495675.1:n.1151-8C>T | |
| ENST00000644225.1:n.1168-8C>T | ||
| ENST00000644498.1:c.1130-8C>T | ENSP00000496244.1:n.1130-8C>T | |
| ENST00000644671.1:c.808-8C>T | ||
| ENST00000644748.1:n.2582-8C>T | ||
| ENST00000644751.1:c.553-8C>T | ||
| ENST00000644781.1:c.1151-8C>T | ENSP00000495473.1:n.1151-8C>T | |
| ENST00000644901.1:c.*1104-8C>T | ENSP00000493797.1:n.*1104-8C>T | |
| ENST00000645042.1:c.1151-8C>T | ENSP00000493908.1:n.1151-8C>T | |
| ENST00000645063.1:c.1151-8C>T | ENSP00000493590.1:n.1151-8C>T | |
| ENST00000645258.1:c.82-8C>T | ||
| ENST00000645354.1:c.1911-8C>T | ||
| ENST00000645818.2:c.1151-8C>T MANE Select | ENSP00000495795.2:n.1151-8C>T | |
| ENST00000645886.1:c.378-8C>T | ||
| ENST00000645897.1:c.987+1647C>T | ENSP00000495293.1:n.987+1647C>T | |
| ENST00000645977.1:n.2269-8C>T | ||
| ENST00000646263.1:c.1151-8C>T | ENSP00000494119.1:n.1151-8C>T | |
| ENST00000646303.1:c.1019-8C>T | ENSP00000494160.1:n.1019-8C>T | |
| ENST00000646399.1:c.834-8C>T | ||
| ENST00000646445.1:c.183-12193C>T | ||
| ENST00000646454.1:n.710+1498C>T | ||
| ENST00000646531.1:c.1151-8C>T | ENSP00000495185.1:n.1151-8C>T | |
| ENST00000646589.1:c.*279-8C>T | ENSP00000494739.1:n.*279-8C>T | |
| ENST00000646716.1:c.377-12193C>T | ENSP00000495593.1:n.377-12193C>T | |
| ENST00000646826.1:c.1151-8C>T | ENSP00000495123.1:n.1151-8C>T | |
| ENST00000646930.1:c.1151-8C>T | ENSP00000495219.1:n.1151-8C>T | |
| ENST00000646958.1:n.2196-8C>T | ||
| ENST00000647032.1:c.766-8C>T | ||
| ENST00000647079.1:c.743-8C>T | ENSP00000495967.1:n.743-8C>T | |
| ENST00000647227.1:c.914-8C>T | ||
| ENST00000268704.6:c.1151-8C>T | ENSP00000268704.2:n.1151-8C>T | |
| ENST00000341316.6:c.1151-8C>T | ENSP00000341157.2:n.1151-8C>T | |
| ENST00000561945.1:n.195-8C>T | ||
| ENST00000564409.1:n.610-8C>T | ||
| ENST00000567138.2:c.33-8C>T | ||
| ENST00000620811.4:c.-426-8C>T | ENSP00000478030.1:n.-426-8C>T | |
| NM_003119.3:c.1151-8C>T | NP_003110.1:n.1151-8C>T | |
| NM_199367.2:c.1151-8C>T | NP_955399.1:n.1151-8C>T | |
| XM_005256321.3:c.1151-8C>T | XP_005256378.1:n.1151-8C>T | |
| XM_006721264.2:c.1151-8C>T | XP_006721327.1:n.1151-8C>T | |
| XM_011523306.1:c.1151-8C>T | XP_011521608.1:n.1151-8C>T | |
| XM_011523307.1:c.1151-8C>T | XP_011521609.1:n.1151-8C>T | |
| NM_001363850.1:c.1151-8C>T | NP_001350779.1:n.1151-8C>T | |
| XM_005256321.4:c.1151-8C>T | XP_005256378.1:n.1151-8C>T | |
| XM_006721264.4:c.1151-8C>T | XP_006721327.1:n.1151-8C>T | |
| XM_017023597.1:c.1151-8C>T | XP_016879086.1:n.1151-8C>T | |
| XM_017023598.1:c.1151-8C>T | XP_016879087.1:n.1151-8C>T | |
| XR_001751971.2:n.1190-8C>T | ||
| XR_001751972.2:n.1190-8C>T | ||
| NM_003119.4:c.1151-8C>T MANE Select | NP_003110.1:n.1151-8C>T | |
| NM_199367.3:c.1151-8C>T | NP_955399.1:n.1151-8C>T |