Linked Data
ClinVar Variation Id:
465172
ClinVar RCV Id:
RCV000536848
dbSNP Id:
rs1286342932
gnomAD v2:
16-89574969-T-G
gnomAD v3:
16-89508561-T-G
gnomAD v4:
16-89508561-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89508561T>G , CM000678.2:g.89508561T>G | GRCh38 |
| NC_000016.9:g.89574969T>G , CM000678.1:g.89574969T>G | GRCh37 |
| NC_000016.8:g.88102470T>G | NCBI36 |
| NG_008082.1:g.5165T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.144T>G | ENSP00000268704.3:p.Pro48= | |
| ENST00000562775.2:n.8T>G | ||
| ENST00000564047.2:n.153T>G | ||
| ENST00000566371.6:c.144T>G | ENSP00000454475.2:p.Pro48= | |
| ENST00000569363.2:n.159T>G | ||
| ENST00000642334.1:c.17T>G | ||
| ENST00000642371.1:c.76T>G | ||
| ENST00000642436.1:n.156T>G | ||
| ENST00000643105.1:c.64T>G | ||
| ENST00000643307.1:c.144T>G | ENSP00000495673.1:p.Pro48= | |
| ENST00000643345.1:c.144T>G | ENSP00000493982.1:p.Pro48= | |
| ENST00000643649.1:c.144T>G | ENSP00000494806.1:p.Pro48= | |
| ENST00000643668.1:c.144T>G | ENSP00000494903.1:p.Pro48= | |
| ENST00000643724.1:c.144T>G | ENSP00000496335.1:p.Pro48= | |
| ENST00000643957.1:c.27T>G | ENSP00000494246.1:p.Pro9= | |
| ENST00000644210.1:c.144T>G | ENSP00000495675.1:p.Pro48= | |
| ENST00000644225.1:n.161T>G | ||
| ENST00000644498.1:c.144T>G | ENSP00000496244.1:p.Pro48= | |
| ENST00000644781.1:c.144T>G | ENSP00000495473.1:p.Pro48= | |
| ENST00000644901.1:c.144T>G | ENSP00000493797.1:p.Pro48= | |
| ENST00000645042.1:c.144T>G | ENSP00000493908.1:p.Pro48= | |
| ENST00000645063.1:c.144T>G | ENSP00000493590.1:p.Pro48= | |
| ENST00000645354.1:c.59T>G | ||
| ENST00000645533.1:c.144T>G | ENSP00000495690.1:p.Pro48= | |
| ENST00000645818.2:c.144T>G MANE Select | ENSP00000495795.2:p.Pro48= | |
| ENST00000645897.1:c.144T>G | ENSP00000495293.1:p.Pro48= | |
| ENST00000645977.1:n.159T>G | ||
| ENST00000646263.1:c.144T>G | ENSP00000494119.1:p.Pro48= | |
| ENST00000646303.1:c.51+821T>G | ENSP00000494160.1:n.51+821T>G | |
| ENST00000646531.1:c.144T>G | ENSP00000495185.1:p.Pro48= | |
| ENST00000646589.1:c.144T>G | ENSP00000494739.1:p.Pro48= | |
| ENST00000646716.1:c.144T>G | ENSP00000495593.1:p.Pro48= | |
| ENST00000646826.1:c.144T>G | ENSP00000495123.1:p.Pro48= | |
| ENST00000646930.1:c.144T>G | ENSP00000495219.1:p.Pro48= | |
| ENST00000646958.1:n.94T>G | ||
| ENST00000647079.1:c.-225-1929T>G | ENSP00000495967.1:n.-225-1929T>G | |
| ENST00000647227.1:c.10T>G | ||
| ENST00000268704.6:c.144T>G | ENSP00000268704.2:p.Pro48= | |
| ENST00000341316.6:c.144T>G | ENSP00000341157.2:p.Pro48= | |
| ENST00000563783.5:n.471-1929T>G | ||
| ENST00000566371.5:c.51+821T>G | ENSP00000454475.1:n.51+821T>G | |
| ENST00000620811.4:c.-1433T>G | ENSP00000478030.1:n.-1433T>G | |
| NM_003119.3:c.144T>G | NP_003110.1:p.Pro48= | |
| NM_199367.2:c.144T>G | NP_955399.1:p.Pro48= | |
| XM_005256321.3:c.144T>G | XP_005256378.1:p.Pro48= | |
| XM_006721264.2:c.144T>G | XP_006721327.1:p.Pro48= | |
| XM_011523306.1:c.144T>G | XP_011521608.1:p.Pro48= | |
| XM_011523307.1:c.144T>G | XP_011521609.1:p.Pro48= | |
| NM_001363850.1:c.144T>G | NP_001350779.1:p.Pro48= | |
| XM_005256321.4:c.144T>G | XP_005256378.1:p.Pro48= | |
| XM_006721264.4:c.144T>G | XP_006721327.1:p.Pro48= | |
| XM_017023597.1:c.144T>G | XP_016879086.1:p.Pro48= | |
| XM_017023598.1:c.144T>G | XP_016879087.1:p.Pro48= | |
| XR_001751971.2:n.183T>G | ||
| XR_001751972.2:n.183T>G | ||
| NM_003119.4:c.144T>G MANE Select | NP_003110.1:p.Pro48= | |
| NM_199367.3:c.144T>G | NP_955399.1:p.Pro48= |