Linked Data
ClinVar Variation Id:
359095
dbSNP Id:
rs756353660
ExAC:
7:143017769 G / A
gnomAD v2:
7-143017769-G-A
gnomAD v3:
7-143320676-G-A
gnomAD v4:
7-143320676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143320676G>A , CM000669.2:g.143320676G>A | GRCh38 |
| NC_000007.13:g.143017769G>A , CM000669.1:g.143017769G>A | GRCh37 |
| NC_000007.12:g.142727891G>A | NCBI36 |
| NG_009815.1:g.9551G>A | |
| NG_009815.2:g.9551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.314G>A | ENSP00000498052.2:p.Arg105His | |
| ENST00000343257.7:c.314G>A MANE Select | ENSP00000339867.2:p.Arg105His | |
| ENST00000432192.6:c.82G>A | ||
| ENST00000650516.1:c.314G>A | ENSP00000498052.1:p.Arg105His | |
| ENST00000343257.6:c.314G>A | ENSP00000339867.2:p.Arg105His | |
| NM_000083.2:c.314G>A | NP_000074.2:p.Arg105His | |
| NR_046453.1:n.401G>A | ||
| XM_011515781.1:c.314G>A | XP_011514083.1:p.Arg105His | |
| XM_017011739.1:c.21G>A | XP_016867228.1:p.Pro7= | |
| XM_017011740.1:c.21G>A | XP_016867229.1:p.Pro7= | |
| NM_000083.3:c.314G>A MANE Select | NP_000074.3:p.Arg105His | |
| NR_046453.2:n.416G>A |