Linked Data
ClinVar Variation Id:
461353
dbSNP Id:
rs139334934
ExAC:
16:56226174 G / A
gnomAD v2:
16-56226174-G-A
gnomAD v3:
16-56192262-G-A
gnomAD v4:
16-56192262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56192262G>A , CM000678.2:g.56192262G>A | GRCh38 |
| NC_000016.9:g.56226174G>A , CM000678.1:g.56226174G>A | GRCh37 |
| NC_000016.8:g.54783675G>A | NCBI36 |
| NG_042800.1:g.5924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.27G>A | ENSP00000262494.7:p.Glu9= | |
| ENST00000262493.12:c.27G>A MANE Select | ENSP00000262493.6:p.Glu9= | |
| ENST00000262494.12:c.27G>A | ENSP00000262494.7:p.Glu9= | |
| ENST00000563661.2:c.27G>A | ENSP00000492694.1:p.Glu9= | |
| ENST00000569295.6:c.27G>A | ENSP00000492271.1:p.Glu9= | |
| ENST00000570235.2:c.27G>A | ENSP00000477740.2:p.Glu9= | |
| ENST00000638705.1:c.27G>A | ENSP00000491223.1:p.Glu9= | |
| ENST00000639966.1:n.42G>A | ||
| ENST00000640893.1:c.27G>A | ENSP00000492677.1:p.Glu9= | |
| ENST00000675160.1:c.27G>A | ENSP00000502403.1:p.Glu9= | |
| ENST00000262493.10:c.27G>A | ENSP00000262493.6:p.Glu9= | |
| ENST00000262494.11:c.27G>A | ENSP00000262494.7:p.Glu9= | |
| ENST00000563661.1:n.24G>A | ||
| ENST00000569295.5:n.249G>A | ||
| ENST00000570235.1:c.27G>A | ENSP00000477740.1:p.Glu9= | |
| NM_020988.2:c.27G>A | NP_066268.1:p.Glu9= | |
| NM_138736.2:c.27G>A | NP_620073.2:p.Glu9= | |
| NM_020988.3:c.27G>A MANE Select | NP_066268.1:p.Glu9= | |
| NM_138736.3:c.27G>A | NP_620073.2:p.Glu9= |