Linked Data
dbSNP Id:
rs764581574
ExAC:
18:7015793 A / AG
gnomAD v2:
18-7015793-A-AG
gnomAD v4:
18-7015794-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015800dup , CM000680.2:g.7015800dup | GRCh38 |
| NC_000018.9:g.7015799dup , CM000680.1:g.7015799dup | GRCh37 |
| NC_000018.8:g.7005799dup | NCBI36 |
| NG_034251.1:g.107020dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3053dup MANE Select | ENSP00000374309.3:p.His1019SerfsTer8 | |
| ENST00000389658.3:c.3053dup | ENSP00000374309.3:p.His1019SerfsTer8 | |
| ENST00000579014.5:n.4068dup | ||
| NM_005559.3:c.3053dup | NP_005550.2:p.His1019SerfsTer8 | |
| XM_011525655.1:c.3053dup | XP_011523957.1:p.His1019SerfsTer8 | |
| XM_011525656.1:c.1481dup | XP_011523958.1:p.His495SerfsTer8 | |
| XM_011525657.1:c.3053dup | XP_011523959.1:p.His1019SerfsTer8 | |
| XM_011525655.2:c.3053dup | XP_011523957.1:p.His1019SerfsTer8 | |
| XM_011525656.2:c.1481dup | XP_011523958.1:p.His495SerfsTer8 | |
| NM_005559.4:c.3053dup MANE Select | NP_005550.2:p.His1019SerfsTer8 |