Linked Data
ClinVar Variation Id:
884592
dbSNP Id:
rs79121622
ExAC:
16:67199736 G / A
gnomAD v2:
16-67199736-G-A
gnomAD v3:
16-67165833-G-A
gnomAD v4:
16-67165833-G-A
COSMIC:
COSM2994220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67165833G>A , CM000678.2:g.67165833G>A | GRCh38 |
| NC_000016.9:g.67199736G>A , CM000678.1:g.67199736G>A | GRCh37 |
| NC_000016.8:g.65757237G>A | NCBI36 |
| NG_009294.1:g.7449G>A | |
| NG_029566.1:g.332G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517867.2:n.630G>A | ||
| ENST00000523077.2:n.846G>A | ||
| ENST00000521374.6:c.347G>A MANE Select | ENSP00000430947.2:p.Arg116His | |
| ENST00000434833.6:c.347G>A | ENSP00000403219.2:p.Arg116His | |
| ENST00000517685.5:c.347G>A | ENSP00000428978.1:p.Arg116His | |
| ENST00000517729.5:c.221G>A | ENSP00000430299.1:p.Arg74His | |
| ENST00000521314.5:c.*94G>A | ENSP00000429580.1:n.*94G>A | |
| ENST00000521374.5:c.347G>A | ENSP00000430947.1:p.Arg116His | |
| ENST00000521624.5:c.347G>A | ENSP00000428161.1:p.Arg116His | |
| ENST00000522023.1:n.414G>A | ||
| ENST00000522295.5:c.347G>A | ENSP00000427832.1:p.Arg116His | |
| ENST00000522870.5:n.566G>A | ||
| ENST00000523562.5:c.347G>A | ENSP00000430631.1:p.Arg116His | |
| ENST00000584272.5:c.347G>A | ENSP00000463706.1:p.Arg116His | |
| NM_001040667.2:c.347G>A | NP_001035757.1:p.Arg116His | |
| NM_001538.3:c.347G>A | NP_001529.2:p.Arg116His | |
| NM_001040667.3:c.347G>A | NP_001035757.1:p.Arg116His | |
| NM_001374674.1:c.347G>A | NP_001361603.1:p.Arg116His | |
| NM_001374675.1:c.347G>A MANE Select | NP_001361604.1:p.Arg116His | |
| NM_001538.4:c.347G>A | NP_001529.2:p.Arg116His |