Linked Data
dbSNP Id:
rs767501166
ExAC:
17:78063566 C / A
gnomAD v2:
17-78063566-C-A
gnomAD v4:
17-80089767-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80089767C>A , CM000679.2:g.80089767C>A | GRCh38 |
| NC_000017.10:g.78063566C>A , CM000679.1:g.78063566C>A | GRCh37 |
| NC_000017.9:g.75678161C>A | NCBI36 |
| NG_029761.1:g.58136C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397545.9:c.2715C>A MANE Select | ENSP00000380679.4:p.His905Gln | |
| ENST00000374877.7:c.2715C>A | ENSP00000364011.3:p.His905Gln | |
| ENST00000397545.8:c.2715C>A | ENSP00000380679.4:p.His905Gln | |
| ENST00000572253.5:n.2966C>A | ||
| ENST00000573903.1:n.377C>A | ||
| ENST00000574799.5:n.2252C>A | ||
| ENST00000575431.1:n.359C>A | ||
| NM_001243342.1:c.2715C>A | NP_001230271.1:p.His905Gln | |
| NM_017950.3:c.2715C>A | NP_060420.2:p.His905Gln | |
| XM_011524963.1:c.2625C>A | XP_011523265.1:p.His875Gln | |
| XM_011524964.1:c.1536C>A | XP_011523266.1:p.His512Gln | |
| XR_934495.1:n.2833C>A | ||
| XM_011524963.3:c.2625C>A | XP_011523265.1:p.His875Gln | |
| XM_011524964.3:c.1536C>A | XP_011523266.1:p.His512Gln | |
| XM_024450821.1:c.2625C>A | XP_024306589.1:p.His875Gln | |
| XR_934495.2:n.2833C>A | ||
| NM_017950.4:c.2715C>A MANE Select | NP_060420.2:p.His905Gln | |
| NM_001243342.2:c.2715C>A | NP_001230271.1:p.His905Gln |