Linked Data
ClinVar Variation Id:
134150
dbSNP Id:
rs146601373
ExAC:
16:14029277 A / T
gnomAD v2:
16-14029277-A-T
gnomAD v3:
16-13935420-A-T
gnomAD v4:
16-13935420-A-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935420A>T , CM000678.2:g.13935420A>T | GRCh38 |
| NC_000016.9:g.14029277A>T , CM000678.1:g.14029277A>T | GRCh37 |
| NC_000016.8:g.13936778A>T | NCBI36 |
| NG_011442.1:g.20264A>T , LRG_463:g.20264A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1566A>T | ||
| ENST00000682617.1:c.1626A>T | ENSP00000507912.1:p.Gln542His | |
| ENST00000682826.1:c.*802A>T | ENSP00000507274.1:n.*802A>T | |
| ENST00000682909.1:n.3528A>T | ||
| ENST00000683277.1:n.3133A>T | ||
| ENST00000683407.1:n.1496A>T | ||
| ENST00000683962.1:c.*1182A>T | ENSP00000506854.1:n.*1182A>T | |
| ENST00000311895.8:c.1488A>T MANE Select | ENSP00000310520.7:p.Gln496His | |
| ENST00000311895.7:c.1488A>T | ENSP00000310520.7:p.Gln496His | |
| ENST00000389138.7:n.765A>T | ||
| NM_005236.2:c.1488A>T , LRG_463t1:c.1488A>T | NP_005227.1:p.Gln496His | |
| XM_011522424.1:c.1626A>T | XP_011520726.1:p.Gln542His | |
| XM_011522425.1:c.945A>T | XP_011520727.1:p.Gln315His | |
| XM_011522426.1:c.699A>T | XP_011520728.1:p.Gln233His | |
| XM_011522427.1:c.138A>T | XP_011520729.1:p.Gln46His | |
| XR_932805.1:n.1647A>T | ||
| XM_011522424.3:c.1626A>T | XP_011520726.1:p.Gln542His | |
| XM_017023043.2:c.699A>T | XP_016878532.1:p.Gln233His | |
| NM_005236.3:c.1488A>T MANE Select | NP_005227.1:p.Gln496His |