Linked Data
dbSNP Id:
rs747124374
ExAC:
11:6638285 G / A
gnomAD v2:
11-6638285-G-A
gnomAD v4:
11-6617054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617054G>A , CM000673.2:g.6617054G>A | GRCh38 |
| NC_000011.9:g.6638285G>A , CM000673.1:g.6638285G>A | GRCh37 |
| NC_000011.8:g.6594861G>A | NCBI36 |
| NG_008653.1:g.7408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.494C>T | ENSP00000507321.1:p.Ser165Phe | |
| ENST00000299427.12:c.608C>T MANE Select | ENSP00000299427.6:p.Ser203Phe | |
| ENST00000436873.7:c.312+247C>T | ||
| ENST00000524788.2:n.1767C>T | ||
| ENST00000524903.2:n.1883C>T | ||
| ENST00000528807.2:n.264C>T | ||
| ENST00000530040.2:n.479+305C>T | ||
| ENST00000533371.6:c.-122C>T | ENSP00000437066.1:n.-122C>T | |
| ENST00000534644.6:n.556C>T | ||
| ENST00000642892.1:c.-122C>T | ENSP00000494165.1:n.-122C>T | |
| ENST00000643439.1:c.*348C>T | ENSP00000495849.1:n.*348C>T | |
| ENST00000643479.1:n.637C>T | ||
| ENST00000643516.1:c.395+247C>T | ||
| ENST00000644151.1:n.2047C>T | ||
| ENST00000644218.1:c.608C>T | ENSP00000493574.1:p.Ser203Phe | |
| ENST00000644683.1:c.*61C>T | ENSP00000494085.1:n.*61C>T | |
| ENST00000644810.1:c.329C>T | ENSP00000495895.1:p.Ser110Phe | |
| ENST00000644831.1:n.784C>T | ||
| ENST00000644933.1:c.-122C>T | ENSP00000496133.1:n.-122C>T | |
| ENST00000645020.1:n.1783C>T | ||
| ENST00000645285.1:c.-122C>T | ENSP00000495058.1:n.-122C>T | |
| ENST00000645331.1:n.974C>T | ||
| ENST00000645620.1:c.-122C>T | ENSP00000493657.1:n.-122C>T | |
| ENST00000646777.1:n.784C>T | ||
| ENST00000647016.1:n.1088C>T | ||
| ENST00000647152.1:c.-122C>T | ENSP00000495893.1:n.-122C>T | |
| ENST00000647209.1:c.*477C>T | ENSP00000495558.1:n.*477C>T | |
| ENST00000647346.1:n.1628C>T | ||
| ENST00000299427.10:c.608C>T | ENSP00000299427.6:p.Ser203Phe | |
| ENST00000428886.6:n.777C>T | ||
| ENST00000436873.6:c.450+305C>T | ENSP00000398136.2:n.450+305C>T | |
| ENST00000524788.1:n.308C>T | ||
| ENST00000528571.5:c.*348C>T | ENSP00000434647.1:n.*348C>T | |
| ENST00000528807.1:n.158C>T | ||
| ENST00000533371.5:c.-122C>T | ENSP00000437066.1:n.-122C>T | |
| ENST00000534644.5:n.593C>T | ||
| ENST00000611494.4:c.608C>T | ENSP00000484546.1:p.Ser203Phe | |
| NM_000391.3:c.608C>T | NP_000382.3:p.Ser203Phe | |
| NM_000391.4:c.608C>T MANE Select | NP_000382.3:p.Ser203Phe |