Linked Data
ClinVar Variation Id:
205360
dbSNP Id:
rs374540411
ExAC:
11:1775270 C / T
gnomAD v2:
11-1775270-C-T
gnomAD v3:
11-1754040-C-T
gnomAD v4:
11-1754040-C-T
COSMIC:
COSM3769261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1754040C>T , CM000673.2:g.1754040C>T | GRCh38 |
| NC_000011.9:g.1775270C>T , CM000673.1:g.1775270C>T | GRCh37 |
| NC_000011.8:g.1731846C>T | NCBI36 |
| NG_008655.1:g.14953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.926G>A MANE Select | ENSP00000236671.2:p.Arg309His | |
| ENST00000367196.4:c.821G>A | ENSP00000356164.4:p.Arg274His | |
| ENST00000427721.3:c.351G>A | ||
| ENST00000429746.2:c.821G>A | ENSP00000402586.2:p.Arg274His | |
| ENST00000433655.6:c.*92G>A | ENSP00000404902.1:n.*92G>A | |
| ENST00000438213.6:c.1043G>A | ENSP00000415036.2:p.Arg348His | |
| ENST00000497544.3:n.542G>A | ||
| ENST00000636397.1:c.926G>A | ENSP00000489910.1:p.Arg309His | |
| ENST00000636571.1:c.905G>A | ENSP00000490770.1:p.Arg302His | |
| ENST00000636615.1:c.926G>A | ENSP00000490014.1:p.Arg309His | |
| ENST00000636843.1:c.920G>A | ENSP00000490897.1:p.Arg307His | |
| ENST00000637158.1:n.524G>A | ||
| ENST00000637381.2:n.3354G>A | ||
| ENST00000637387.1:c.926G>A | ENSP00000490598.1:p.Arg309His | |
| ENST00000637815.2:c.908G>A | ENSP00000490344.1:p.Arg303His | |
| ENST00000637915.1:c.926G>A | ENSP00000490471.1:p.Arg309His | |
| ENST00000637937.1:n.234G>A | ||
| ENST00000678991.1:c.*787G>A | ENSP00000503019.1:n.*787G>A | |
| ENST00000236671.6:c.926G>A | ENSP00000236671.2:p.Arg309His | |
| ENST00000427721.2:c.326G>A | ENSP00000415840.2:p.Arg109His | |
| ENST00000429746.1:c.257G>A | ENSP00000402586.1:p.Arg86His | |
| ENST00000433655.5:c.*92G>A | ENSP00000404902.1:n.*92G>A | |
| ENST00000438213.5:c.881G>A | ENSP00000415036.1:p.Arg294His | |
| ENST00000497544.1:n.542G>A | ||
| NM_001909.4:c.926G>A | NP_001900.1:p.Arg309His | |
| NM_001909.5:c.926G>A MANE Select | NP_001900.1:p.Arg309His |