Linked Data
ClinVar Variation Id:
533737
ClinVar RCV Id:
RCV000640981
dbSNP Id:
rs1412575396
gnomAD v4:
16-89529580-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89529580G>T , CM000678.2:g.89529580G>T | GRCh38 |
| NC_000016.9:g.89595988G>T , CM000678.1:g.89595988G>T | GRCh37 |
| NC_000016.8:g.88123489G>T | NCBI36 |
| NG_008082.1:g.26184G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.861+1G>T | ENSP00000268704.3:n.861+1G>T | |
| ENST00000564047.2:n.871G>T | ||
| ENST00000564409.2:c.917+56G>T | ENSP00000495297.1:n.917+56G>T | |
| ENST00000566371.6:c.619-1103G>T | ENSP00000454475.2:n.619-1103G>T | |
| ENST00000642334.1:c.734+1G>T | ||
| ENST00000642371.1:c.940+56G>T | ||
| ENST00000642427.1:n.261+1G>T | ||
| ENST00000642436.1:n.389-11364G>T | ||
| ENST00000643105.1:c.781+1G>T | ||
| ENST00000643178.1:n.407-1103G>T | ||
| ENST00000643307.1:c.861+1G>T | ENSP00000495673.1:n.861+1G>T | |
| ENST00000643345.1:c.*385+56G>T | ENSP00000493982.1:n.*385+56G>T | |
| ENST00000643370.1:c.198+1G>T | ENSP00000494895.1:n.198+1G>T | |
| ENST00000643496.1:n.678+1G>T | ||
| ENST00000643649.1:c.861+1G>T | ENSP00000494806.1:n.861+1G>T | |
| ENST00000643668.1:c.*1155+1G>T | ENSP00000494903.1:n.*1155+1G>T | |
| ENST00000643724.1:c.*371+56G>T | ENSP00000496335.1:n.*371+56G>T | |
| ENST00000643954.1:c.599+1G>T | ||
| ENST00000644210.1:c.861+1G>T | ENSP00000495675.1:n.861+1G>T | |
| ENST00000644225.1:n.878+1G>T | ||
| ENST00000644498.1:c.861+1G>T | ENSP00000496244.1:n.861+1G>T | |
| ENST00000644671.1:c.524+1G>T | ||
| ENST00000644748.1:n.2292+1G>T | ||
| ENST00000644751.1:c.263+1G>T | ||
| ENST00000644781.1:c.861+1G>T | ENSP00000495473.1:n.861+1G>T | |
| ENST00000644901.1:c.*814+56G>T | ENSP00000493797.1:n.*814+56G>T | |
| ENST00000645042.1:c.861+1G>T | ENSP00000493908.1:n.861+1G>T | |
| ENST00000645063.1:c.861+1G>T | ENSP00000493590.1:n.861+1G>T | |
| ENST00000645354.1:c.1621+1G>T | ||
| ENST00000645533.1:c.861+1G>T | ENSP00000495690.1:n.861+1G>T | |
| ENST00000645818.2:c.861+1G>T MANE Select | ENSP00000495795.2:n.861+1G>T | |
| ENST00000645886.1:c.88+1G>T | ||
| ENST00000645897.1:c.861+1G>T | ENSP00000495293.1:n.861+1G>T | |
| ENST00000645977.1:n.877G>T | ||
| ENST00000646263.1:c.861+1G>T | ENSP00000494119.1:n.861+1G>T | |
| ENST00000646303.1:c.729+1G>T | ENSP00000494160.1:n.729+1G>T | |
| ENST00000646399.1:c.544+1G>T | ||
| ENST00000646445.1:c.183-15068G>T | ||
| ENST00000646531.1:c.861+1G>T | ENSP00000495185.1:n.861+1G>T | |
| ENST00000646589.1:c.377-1103G>T | ENSP00000494739.1:n.377-1103G>T | |
| ENST00000646716.1:c.377-15068G>T | ENSP00000495593.1:n.377-15068G>T | |
| ENST00000646826.1:c.861+1G>T | ENSP00000495123.1:n.861+1G>T | |
| ENST00000646930.1:c.861+1G>T | ENSP00000495219.1:n.861+1G>T | |
| ENST00000646958.1:n.811+1G>T | ||
| ENST00000647032.1:c.476+1G>T | ||
| ENST00000647079.1:c.453+1G>T | ENSP00000495967.1:n.453+1G>T | |
| ENST00000647227.1:c.624+1G>T | ||
| ENST00000268704.6:c.861+1G>T | ENSP00000268704.2:n.861+1G>T | |
| ENST00000341316.6:c.861+1G>T | ENSP00000341157.2:n.861+1G>T | |
| ENST00000564047.1:n.288G>T | ||
| ENST00000564409.1:n.320+56G>T | ||
| ENST00000620811.4:c.-716+1G>T | ENSP00000478030.1:n.-716+1G>T | |
| NM_003119.3:c.861+1G>T | NP_003110.1:n.861+1G>T | |
| NM_199367.2:c.861+1G>T | NP_955399.1:n.861+1G>T | |
| XM_005256321.3:c.861+1G>T | XP_005256378.1:n.861+1G>T | |
| XM_006721264.2:c.861+1G>T | XP_006721327.1:n.861+1G>T | |
| XM_011523306.1:c.861+1G>T | XP_011521608.1:n.861+1G>T | |
| XM_011523307.1:c.861+1G>T | XP_011521609.1:n.861+1G>T | |
| NM_001363850.1:c.861+1G>T | NP_001350779.1:n.861+1G>T | |
| XM_005256321.4:c.861+1G>T | XP_005256378.1:n.861+1G>T | |
| XM_006721264.4:c.861+1G>T | XP_006721327.1:n.861+1G>T | |
| XM_017023597.1:c.861+1G>T | XP_016879086.1:n.861+1G>T | |
| XM_017023598.1:c.861+1G>T | XP_016879087.1:n.861+1G>T | |
| XR_001751971.2:n.900+1G>T | ||
| XR_001751972.2:n.900+1G>T | ||
| NM_003119.4:c.861+1G>T MANE Select | NP_003110.1:n.861+1G>T | |
| NM_199367.3:c.861+1G>T | NP_955399.1:n.861+1G>T |