Linked Data
ClinVar Variation Id:
861495
dbSNP Id:
rs374132017
ExAC:
11:6638914 G / A
gnomAD v2:
11-6638914-G-A
gnomAD v3:
11-6617683-G-A
gnomAD v4:
11-6617683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617683G>A , CM000673.2:g.6617683G>A | GRCh38 |
| NC_000011.9:g.6638914G>A , CM000673.1:g.6638914G>A | GRCh37 |
| NC_000011.8:g.6595490G>A | NCBI36 |
| NG_008653.1:g.6779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.209C>T | ENSP00000507321.1:p.Ala70Val | |
| ENST00000299427.12:c.323C>T MANE Select | ENSP00000299427.6:p.Ala108Val | |
| ENST00000428886.7:n.411C>T | ||
| ENST00000436873.7:c.127C>T | ||
| ENST00000524788.2:n.1335C>T | ||
| ENST00000524903.2:n.1451C>T | ||
| ENST00000528571.6:c.*63C>T | ENSP00000434647.1:n.*63C>T | |
| ENST00000530040.2:n.352C>T | ||
| ENST00000533371.6:c.-407C>T | ENSP00000437066.1:n.-407C>T | |
| ENST00000534644.6:n.324C>T | ||
| ENST00000642892.1:c.-354C>T | ENSP00000494165.1:n.-354C>T | |
| ENST00000643439.1:c.*63C>T | ENSP00000495849.1:n.*63C>T | |
| ENST00000643479.1:n.352C>T | ||
| ENST00000643516.1:c.210C>T | ||
| ENST00000644151.1:n.1615C>T | ||
| ENST00000644218.1:c.323C>T | ENSP00000493574.1:p.Ala108Val | |
| ENST00000644683.1:c.323C>T | ENSP00000494085.1:p.Ala108Val | |
| ENST00000644810.1:c.230-530C>T | ENSP00000495895.1:n.230-530C>T | |
| ENST00000644831.1:n.352C>T | ||
| ENST00000644933.1:c.-407C>T | ENSP00000496133.1:n.-407C>T | |
| ENST00000645020.1:n.1351C>T | ||
| ENST00000645285.1:c.-407C>T | ENSP00000495058.1:n.-407C>T | |
| ENST00000645331.1:n.345C>T | ||
| ENST00000645620.1:c.-349C>T | ENSP00000493657.1:n.-349C>T | |
| ENST00000646777.1:n.352C>T | ||
| ENST00000647016.1:n.656C>T | ||
| ENST00000647152.1:c.-407C>T | ENSP00000495893.1:n.-407C>T | |
| ENST00000647209.1:c.*192C>T | ENSP00000495558.1:n.*192C>T | |
| ENST00000647346.1:n.1343C>T | ||
| ENST00000299427.10:c.323C>T | ENSP00000299427.6:p.Ala108Val | |
| ENST00000428886.6:n.345C>T | ||
| ENST00000436873.6:c.323C>T | ENSP00000398136.2:p.Ala108Val | |
| ENST00000528571.5:c.*63C>T | ENSP00000434647.1:n.*63C>T | |
| ENST00000530040.1:n.435C>T | ||
| ENST00000533371.5:c.-407C>T | ENSP00000437066.1:n.-407C>T | |
| ENST00000534644.5:n.308C>T | ||
| ENST00000611494.4:c.323C>T | ENSP00000484546.1:p.Ala108Val | |
| NM_000391.3:c.323C>T | NP_000382.3:p.Ala108Val | |
| NM_000391.4:c.323C>T MANE Select | NP_000382.3:p.Ala108Val |