Linked Data
ClinVar Variation Id:
208849
dbSNP Id:
rs797045138
gnomAD v2:
11-1774776-C-T
gnomAD v4:
11-1753546-C-T
PubMed:
PMID:25298308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753546C>T , CM000673.2:g.1753546C>T | GRCh38 |
| NC_000011.9:g.1774776C>T , CM000673.1:g.1774776C>T | GRCh37 |
| NC_000011.8:g.1731352C>T | NCBI36 |
| NG_008655.1:g.15447G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.1196G>A MANE Select | ENSP00000236671.2:p.Arg399His | |
| ENST00000367196.4:c.1091G>A | ENSP00000356164.4:p.Arg364His | |
| ENST00000427721.3:c.621G>A | ||
| ENST00000429746.2:c.1091G>A | ENSP00000402586.2:p.Arg364His | |
| ENST00000433655.6:c.*362G>A | ENSP00000404902.1:n.*362G>A | |
| ENST00000438213.6:c.1313G>A | ENSP00000415036.2:p.Arg438His | |
| ENST00000636397.1:c.1071+257G>A | ENSP00000489910.1:n.1071+257G>A | |
| ENST00000636571.1:c.1175G>A | ENSP00000490770.1:p.Arg392His | |
| ENST00000636579.1:c.72+257G>A | ENSP00000490489.1:n.72+257G>A | |
| ENST00000636615.1:c.1071+257G>A | ENSP00000490014.1:n.1071+257G>A | |
| ENST00000636843.1:c.1190G>A | ENSP00000490897.1:p.Arg397His | |
| ENST00000637158.1:n.794G>A | ||
| ENST00000637381.2:n.3624G>A | ||
| ENST00000637387.1:c.1175G>A | ENSP00000490598.1:p.Arg392His | |
| ENST00000637815.2:c.1178G>A | ENSP00000490344.1:p.Arg393His | |
| ENST00000637915.1:c.1187G>A | ENSP00000490471.1:p.Arg396His | |
| ENST00000637937.1:n.504G>A | ||
| ENST00000678991.1:c.*1057G>A | ENSP00000503019.1:n.*1057G>A | |
| ENST00000236671.6:c.1196G>A | ENSP00000236671.2:p.Arg399His | |
| ENST00000427721.2:c.471+257G>A | ENSP00000415840.2:n.471+257G>A | |
| ENST00000429746.1:c.527G>A | ENSP00000402586.1:p.Arg176His | |
| ENST00000433655.5:c.*362G>A | ENSP00000404902.1:n.*362G>A | |
| NM_001909.4:c.1196G>A | NP_001900.1:p.Arg399His | |
| NM_001909.5:c.1196G>A MANE Select | NP_001900.1:p.Arg399His |