Linked Data
ClinVar Variation Id:
31035
dbSNP Id:
rs387907082
gnomAD v3:
19-36081512-G-A
gnomAD v4:
19-36081512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36081512G>A , CM000681.2:g.36081512G>A | GRCh38 |
| NC_000019.9:g.36572414G>A , CM000681.1:g.36572414G>A | GRCh37 |
| NC_000019.8:g.41264254G>A | NCBI36 |
| NG_028101.1:g.31632G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.1313G>A | ENSP00000270301.6:p.Arg438His | |
| ENST00000401500.7:c.1313G>A MANE Select | ENSP00000384792.1:p.Arg438His | |
| ENST00000587391.6:c.1313G>A | ENSP00000465525.1:p.Arg438His | |
| ENST00000644764.2:c.*105G>A | ENSP00000494253.2:n.*105G>A | |
| ENST00000679682.1:c.1298G>A | ENSP00000506226.1:p.Arg433His | |
| ENST00000679714.1:c.1307G>A | ENSP00000506627.1:p.Arg436His | |
| ENST00000679757.1:c.962G>A | ENSP00000505158.1:p.Arg321His | |
| ENST00000679858.1:c.*110G>A | ENSP00000505655.1:n.*110G>A | |
| ENST00000680359.1:c.1313G>A | ENSP00000506079.1:p.Arg438His | |
| ENST00000680403.1:c.1313G>A | ENSP00000505677.1:p.Arg438His | |
| ENST00000680489.1:n.1636G>A | ||
| ENST00000680564.1:c.1313G>A | ENSP00000505582.1:p.Arg438His | |
| ENST00000680590.1:c.1313G>A | ENSP00000505350.1:p.Arg438His | |
| ENST00000680806.1:c.*142G>A | ENSP00000506418.1:n.*142G>A | |
| ENST00000681625.1:c.1298G>A | ENSP00000505555.1:p.Arg433His | |
| ENST00000270301.11:c.1313G>A | ENSP00000270301.6:p.Arg438His | |
| ENST00000401500.6:c.1313G>A | ENSP00000384792.1:p.Arg438His | |
| ENST00000587391.5:c.1313G>A | ENSP00000465525.1:p.Arg438His | |
| NM_001083961.1:c.1313G>A | NP_001077430.1:p.Arg438His | |
| NM_173636.4:c.1313G>A | NP_775907.4:p.Arg438His | |
| XM_005258809.2:c.1313G>A | XP_005258866.1:p.Arg438His | |
| XM_011526837.1:c.1298G>A | XP_011525139.1:p.Arg433His | |
| XM_011526838.1:c.1313G>A | XP_011525140.1:p.Arg438His | |
| XM_011526839.1:c.962G>A | XP_011525141.1:p.Arg321His | |
| XM_011526840.1:c.305G>A | XP_011525142.1:p.Arg102His | |
| XM_011526840.2:c.305G>A | XP_011525142.1:p.Arg102His | |
| XM_017026665.1:c.1313G>A | XP_016882154.1:p.Arg438His | |
| XR_001753671.1:n.1404G>A | ||
| XR_001753672.1:n.1404G>A | ||
| NM_001083961.2:c.1313G>A MANE Select | NP_001077430.1:p.Arg438His | |
| NM_173636.5:c.1313G>A | NP_775907.4:p.Arg438His |