Linked Data
ClinVar Variation Id:
195194
dbSNP Id:
rs770487062
ExAC:
16:89576948 G / T
gnomAD v2:
16-89576948-G-T
gnomAD v3:
16-89510540-G-T
gnomAD v4:
16-89510540-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89510540G>T , CM000678.2:g.89510540G>T | GRCh38 |
| NC_000016.9:g.89576948G>T , CM000678.1:g.89576948G>T | GRCh37 |
| NC_000016.8:g.88104449G>T | NCBI36 |
| NG_008082.1:g.7144G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.234G>T | ENSP00000268704.3:p.Leu78Phe | |
| ENST00000562775.2:n.98G>T | ||
| ENST00000564047.2:n.243G>T | ||
| ENST00000564409.2:c.3G>T | ENSP00000495297.1:p.Leu1Phe | |
| ENST00000566371.6:c.234G>T | ENSP00000454475.2:p.Leu78Phe | |
| ENST00000569363.2:n.249G>T | ||
| ENST00000642334.1:c.107G>T | ||
| ENST00000642371.1:c.166G>T | ||
| ENST00000642436.1:n.246G>T | ||
| ENST00000643105.1:c.154G>T | ||
| ENST00000643307.1:c.234G>T | ENSP00000495673.1:p.Leu78Phe | |
| ENST00000643345.1:c.234G>T | ENSP00000493982.1:p.Leu78Phe | |
| ENST00000643649.1:c.234G>T | ENSP00000494806.1:p.Leu78Phe | |
| ENST00000643668.1:c.234G>T | ENSP00000494903.1:p.Leu78Phe | |
| ENST00000643724.1:c.234G>T | ENSP00000496335.1:p.Leu78Phe | |
| ENST00000643957.1:c.117G>T | ENSP00000494246.1:p.Leu39Phe | |
| ENST00000644210.1:c.234G>T | ENSP00000495675.1:p.Leu78Phe | |
| ENST00000644225.1:n.251G>T | ||
| ENST00000644498.1:c.234G>T | ENSP00000496244.1:p.Leu78Phe | |
| ENST00000644781.1:c.234G>T | ENSP00000495473.1:p.Leu78Phe | |
| ENST00000644901.1:c.234G>T | ENSP00000493797.1:p.Leu78Phe | |
| ENST00000645042.1:c.234G>T | ENSP00000493908.1:p.Leu78Phe | |
| ENST00000645063.1:c.234G>T | ENSP00000493590.1:p.Leu78Phe | |
| ENST00000645354.1:c.149G>T | ||
| ENST00000645533.1:c.234G>T | ENSP00000495690.1:p.Leu78Phe | |
| ENST00000645818.2:c.234G>T MANE Select | ENSP00000495795.2:p.Leu78Phe | |
| ENST00000645897.1:c.234G>T | ENSP00000495293.1:p.Leu78Phe | |
| ENST00000645977.1:n.249G>T | ||
| ENST00000646263.1:c.234G>T | ENSP00000494119.1:p.Leu78Phe | |
| ENST00000646303.1:c.102G>T | ENSP00000494160.1:p.Leu34Phe | |
| ENST00000646445.1:c.40G>T | ||
| ENST00000646531.1:c.234G>T | ENSP00000495185.1:p.Leu78Phe | |
| ENST00000646589.1:c.234G>T | ENSP00000494739.1:p.Leu78Phe | |
| ENST00000646716.1:c.234G>T | ENSP00000495593.1:p.Leu78Phe | |
| ENST00000646826.1:c.234G>T | ENSP00000495123.1:p.Leu78Phe | |
| ENST00000646930.1:c.234G>T | ENSP00000495219.1:p.Leu78Phe | |
| ENST00000646958.1:n.184G>T | ||
| ENST00000647079.1:c.-175G>T | ENSP00000495967.1:n.-175G>T | |
| ENST00000647227.1:c.49+1940G>T | ||
| ENST00000268704.6:c.234G>T | ENSP00000268704.2:p.Leu78Phe | |
| ENST00000341316.6:c.234G>T | ENSP00000341157.2:p.Leu78Phe | |
| ENST00000563783.5:n.521G>T | ||
| ENST00000566371.5:c.102G>T | ENSP00000454475.1:p.Leu34Phe | |
| ENST00000568151.1:c.330G>T | ENSP00000457719.1:p.Leu110Phe | |
| ENST00000569363.1:n.75G>T | ||
| ENST00000620811.4:c.-1343G>T | ENSP00000478030.1:n.-1343G>T | |
| NM_003119.3:c.234G>T | NP_003110.1:p.Leu78Phe | |
| NM_199367.2:c.234G>T | NP_955399.1:p.Leu78Phe | |
| XM_005256321.3:c.234G>T | XP_005256378.1:p.Leu78Phe | |
| XM_006721264.2:c.234G>T | XP_006721327.1:p.Leu78Phe | |
| XM_011523306.1:c.234G>T | XP_011521608.1:p.Leu78Phe | |
| XM_011523307.1:c.234G>T | XP_011521609.1:p.Leu78Phe | |
| NM_001363850.1:c.234G>T | NP_001350779.1:p.Leu78Phe | |
| XM_005256321.4:c.234G>T | XP_005256378.1:p.Leu78Phe | |
| XM_006721264.4:c.234G>T | XP_006721327.1:p.Leu78Phe | |
| XM_017023597.1:c.234G>T | XP_016879086.1:p.Leu78Phe | |
| XM_017023598.1:c.234G>T | XP_016879087.1:p.Leu78Phe | |
| XR_001751971.2:n.273G>T | ||
| XR_001751972.2:n.273G>T | ||
| NM_003119.4:c.234G>T MANE Select | NP_003110.1:p.Leu78Phe | |
| NM_199367.3:c.234G>T | NP_955399.1:p.Leu78Phe |