Linked Data
ClinVar Variation Id:
1746946
ClinVar RCV Id:
RCV002346906
dbSNP Id:
rs761362403
ExAC:
16:3779705 G / A
gnomAD v2:
16-3779705-G-A
gnomAD v3:
16-3729704-G-A
gnomAD v4:
16-3729704-G-A
COSMIC:
COSM3387435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729704G>A , CM000678.2:g.3729704G>A | GRCh38 |
| NC_000016.9:g.3779705G>A , CM000678.1:g.3779705G>A | GRCh37 |
| NC_000016.8:g.3719706G>A | NCBI36 |
| NG_009873.1:g.155417C>T | |
| NG_009873.2:g.156010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5343C>T MANE Select | ENSP00000262367.5:p.His1781= | |
| ENST00000262367.9:c.5343C>T | ENSP00000262367.5:p.His1781= | |
| ENST00000382070.7:c.5229C>T | ENSP00000371502.3:p.His1743= | |
| NM_001079846.1:c.5229C>T | NP_001073315.1:p.His1743= | |
| NM_004380.2:c.5343C>T | NP_004371.2:p.His1781= | |
| XM_005255124.3:c.5298C>T | XP_005255181.1:p.His1766= | |
| XM_005255125.3:c.4926C>T | XP_005255182.1:p.His1642= | |
| XM_006720848.2:c.5082C>T | XP_006720911.1:p.His1694= | |
| XM_011522380.1:c.5289C>T | XP_011520682.1:p.His1763= | |
| XM_011522381.1:c.4590C>T | XP_011520683.1:p.His1530= | |
| XM_005255124.4:c.5298C>T | XP_005255181.1:p.His1766= | |
| XM_005255125.4:c.4926C>T | XP_005255182.1:p.His1642= | |
| XM_006720848.3:c.5082C>T | XP_006720911.1:p.His1694= | |
| XM_011522381.2:c.4590C>T | XP_011520683.1:p.His1530= | |
| XM_017022944.1:c.5337C>T | XP_016878433.1:p.His1779= | |
| NM_004380.3:c.5343C>T MANE Select | NP_004371.2:p.His1781= |