Linked Data
ClinVar Variation Id:
1703329
dbSNP Id:
rs139483880
ExAC:
10:70764833 G / A
gnomAD v2:
10-70764833-G-A
gnomAD v3:
10-69005077-G-A
gnomAD v4:
10-69005077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69005077G>A , CM000672.2:g.69005077G>A | GRCh38 |
| NC_000010.10:g.70764833G>A , CM000672.1:g.70764833G>A | GRCh37 |
| NC_000010.9:g.70434839G>A | NCBI36 |
| NG_017061.1:g.21357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.557G>A MANE Select | ENSP00000354848.4:p.Arg186His | |
| ENST00000625461.2:n.587G>A | ||
| ENST00000626493.2:c.557G>A | ENSP00000486692.1:p.Arg186His | |
| ENST00000635779.2:c.557G>A | ENSP00000489663.1:p.Arg186His | |
| ENST00000635971.2:c.557G>A | ENSP00000489878.2:p.Arg186His | |
| ENST00000636200.2:c.557G>A | ENSP00000490113.2:p.Arg186His | |
| ENST00000637101.2:c.*130G>A | ENSP00000490704.1:n.*130G>A | |
| ENST00000637104.2:c.*126G>A | ENSP00000490019.2:n.*126G>A | |
| ENST00000637323.2:c.*198G>A | ENSP00000489659.2:n.*198G>A | |
| ENST00000637420.2:c.557G>A | ENSP00000490404.2:p.Arg186His | |
| ENST00000637738.2:c.557G>A | ENSP00000490742.2:p.Arg186His | |
| ENST00000638119.2:c.632G>A | ENSP00000490026.1:p.Arg211His | |
| ENST00000674660.1:c.526-20G>A | ENSP00000502562.1:n.526-20G>A | |
| ENST00000674688.1:n.587G>A | ||
| ENST00000674897.1:c.41G>A | ENSP00000502225.1:p.Arg14His | |
| ENST00000674936.1:c.557G>A | ENSP00000502484.1:p.Arg186His | |
| ENST00000675576.1:c.458G>A | ENSP00000502750.1:p.Arg153His | |
| ENST00000676080.1:c.*70G>A | ENSP00000502706.1:n.*70G>A | |
| ENST00000361983.6:c.557G>A | ENSP00000354848.4:p.Arg186His | |
| ENST00000625461.1:n.273G>A | ||
| ENST00000626493.1:c.557G>A | ENSP00000486692.1:p.Arg186His | |
| NM_015634.3:c.557G>A | NP_056449.1:p.Arg186His | |
| NM_015634.4:c.557G>A MANE Select | NP_056449.1:p.Arg186His |