Linked Data
dbSNP Id:
rs762727664
ExAC:
18:7015753 G / A
gnomAD v2:
18-7015753-G-A
gnomAD v3:
18-7015754-G-A
gnomAD v4:
18-7015754-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015754G>A , CM000680.2:g.7015754G>A | GRCh38 |
| NC_000018.9:g.7015753G>A , CM000680.1:g.7015753G>A | GRCh37 |
| NC_000018.8:g.7005753G>A | NCBI36 |
| NG_034251.1:g.107061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3094C>T MANE Select | ENSP00000374309.3:p.His1032Tyr | |
| ENST00000389658.3:c.3094C>T | ENSP00000374309.3:p.His1032Tyr | |
| ENST00000579014.5:n.4109C>T | ||
| NM_005559.3:c.3094C>T | NP_005550.2:p.His1032Tyr | |
| XM_011525655.1:c.3094C>T | XP_011523957.1:p.His1032Tyr | |
| XM_011525656.1:c.1522C>T | XP_011523958.1:p.His508Tyr | |
| XM_011525657.1:c.3094C>T | XP_011523959.1:p.His1032Tyr | |
| XM_011525655.2:c.3094C>T | XP_011523957.1:p.His1032Tyr | |
| XM_011525656.2:c.1522C>T | XP_011523958.1:p.His508Tyr | |
| NM_005559.4:c.3094C>T MANE Select | NP_005550.2:p.His1032Tyr |