Linked Data
ClinVar Variation Id:
518307
dbSNP Id:
rs7252299
ExAC:
19:8645786 A / C
gnomAD v2:
19-8645786-A-C
gnomAD v3:
19-8580902-A-C
gnomAD v4:
19-8580902-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580902A>C , CM000681.2:g.8580902A>C | GRCh38 |
| NC_000019.9:g.8645786A>C , CM000681.1:g.8645786A>C | GRCh37 |
| NC_000019.8:g.8551786A>C | NCBI36 |
| NG_011840.2:g.34801T>G | |
| NG_052844.1:g.1546T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3303T>G MANE Select | ENSP00000471851.1:p.His1101Gln | |
| ENST00000270328.8:c.3303T>G | ENSP00000270328.4:p.His1101Gln | |
| ENST00000593913.5:c.*2180T>G | ENSP00000469901.1:n.*2180T>G | |
| ENST00000595838.5:c.1764T>G | ENSP00000470501.1:p.His588Gln | |
| ENST00000597188.5:c.3303T>G | ENSP00000471851.1:p.His1101Gln | |
| NM_001282352.1:c.1764T>G | NP_001269281.1:p.His588Gln | |
| NM_030957.3:c.3303T>G | NP_112219.3:p.His1101Gln | |
| XM_006722917.2:c.2346T>G | XP_006722980.1:p.His782Gln | |
| XM_011528331.1:c.3450T>G | XP_011526633.1:p.His1150Gln | |
| XM_011528332.1:c.3450T>G | XP_011526634.1:p.His1150Gln | |
| XM_011528333.1:c.3450T>G | XP_011526635.1:p.His1150Gln | |
| XM_011528334.1:c.3126T>G | XP_011526636.1:p.His1042Gln | |
| XM_011528335.1:c.2019T>G | XP_011526637.1:p.His673Gln | |
| XM_011528336.1:c.2013T>G | XP_011526638.1:p.His671Gln | |
| XM_006722917.3:c.2346T>G | XP_006722980.1:p.His782Gln | |
| XM_017027338.2:c.3303T>G | XP_016882827.1:p.His1101Gln | |
| XM_017027339.1:c.1872T>G | XP_016882828.1:p.His624Gln | |
| XM_017027340.1:c.1866T>G | XP_016882829.1:p.His622Gln | |
| NM_030957.4:c.3303T>G MANE Select | NP_112219.3:p.His1101Gln | |
| NM_001282352.2:c.1764T>G | NP_001269281.1:p.His588Gln |