Linked Data
ClinVar Variation Id:
207579
dbSNP Id:
rs140176031
ExAC:
11:6638002 C / T
gnomAD v2:
11-6638002-C-T
gnomAD v3:
11-6616771-C-T
gnomAD v4:
11-6616771-C-T
COSMIC:
COSM287394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616771C>T , CM000673.2:g.6616771C>T | GRCh38 |
| NC_000011.9:g.6638002C>T , CM000673.1:g.6638002C>T | GRCh37 |
| NC_000011.8:g.6594578C>T | NCBI36 |
| NG_008653.1:g.7691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.662G>A | ENSP00000507321.1:p.Arg221His | |
| ENST00000299427.12:c.776G>A MANE Select | ENSP00000299427.6:p.Arg259His | |
| ENST00000436873.7:c.312+530G>A | ||
| ENST00000524788.2:n.1935G>A | ||
| ENST00000524903.2:n.2051G>A | ||
| ENST00000528807.2:n.432G>A | ||
| ENST00000530040.2:n.480-268G>A | ||
| ENST00000533371.6:c.47G>A | ENSP00000437066.1:p.Arg16His | |
| ENST00000642892.1:c.47G>A | ENSP00000494165.1:p.Arg16His | |
| ENST00000643439.1:c.*516G>A | ENSP00000495849.1:n.*516G>A | |
| ENST00000643479.1:n.805G>A | ||
| ENST00000643516.1:c.396-268G>A | ||
| ENST00000644151.1:n.2215G>A | ||
| ENST00000644218.1:c.776G>A | ENSP00000493574.1:p.Arg259His | |
| ENST00000644683.1:c.*229G>A | ENSP00000494085.1:n.*229G>A | |
| ENST00000644810.1:c.497G>A | ENSP00000495895.1:p.Arg166His | |
| ENST00000644831.1:n.952G>A | ||
| ENST00000644933.1:c.47G>A | ENSP00000496133.1:p.Arg16His | |
| ENST00000645020.1:n.2066G>A | ||
| ENST00000645285.1:c.47G>A | ENSP00000495058.1:p.Arg16His | |
| ENST00000645331.1:n.1142G>A | ||
| ENST00000645620.1:c.47G>A | ENSP00000493657.1:p.Arg16His | |
| ENST00000646777.1:n.952G>A | ||
| ENST00000647016.1:n.1256G>A | ||
| ENST00000647152.1:c.47G>A | ENSP00000495893.1:p.Arg16His | |
| ENST00000647209.1:c.*645G>A | ENSP00000495558.1:n.*645G>A | |
| ENST00000647346.1:n.1796G>A | ||
| ENST00000299427.10:c.776G>A | ENSP00000299427.6:p.Arg259His | |
| ENST00000436873.6:c.451-268G>A | ENSP00000398136.2:n.451-268G>A | |
| ENST00000524788.1:n.476G>A | ||
| ENST00000528807.1:n.326G>A | ||
| ENST00000533371.5:c.47G>A | ENSP00000437066.1:p.Arg16His | |
| ENST00000611494.4:c.776G>A | ENSP00000484546.1:p.Arg259His | |
| NM_000391.3:c.776G>A | NP_000382.3:p.Arg259His | |
| NM_000391.4:c.776G>A MANE Select | NP_000382.3:p.Arg259His |