Linked Data
ClinVar Variation Id:
318426
dbSNP Id:
rs151260964
ExAC:
16:2336766 G / A
gnomAD v2:
16-2336766-G-A
gnomAD v3:
16-2286765-G-A
gnomAD v4:
16-2286765-G-A
COSMIC:
COSM968745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2286765G>A , CM000678.2:g.2286765G>A | GRCh38 |
| NC_000016.9:g.2336766G>A , CM000678.1:g.2336766G>A | GRCh37 |
| NC_000016.8:g.2276767G>A | NCBI36 |
| NG_011790.1:g.58982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3207C>T MANE Select | ENSP00000301732.5:p.His1069= | |
| ENST00000301732.9:c.3207C>T | ENSP00000301732.5:p.His1069= | |
| ENST00000382381.7:c.3033C>T | ENSP00000371818.3:p.His1011= | |
| NM_001089.2:c.3207C>T | NP_001080.2:p.His1069= | |
| NM_001089.3:c.3207C>T MANE Select | NP_001080.2:p.His1069= |