Linked Data
ClinVar Variation Id:
158696
dbSNP Id:
rs2255607
ExAC:
10:70748784 G / A
gnomAD v2:
10-70748784-G-A
gnomAD v3:
10-68989028-G-A
gnomAD v4:
10-68989028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68989028G>A , CM000672.2:g.68989028G>A | GRCh38 |
| NC_000010.10:g.70748784G>A , CM000672.1:g.70748784G>A | GRCh37 |
| NC_000010.9:g.70418790G>A | NCBI36 |
| NG_017061.1:g.5308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.196G>A MANE Select | ENSP00000354848.4:p.Gly66Ser | |
| ENST00000625461.2:n.226G>A | ||
| ENST00000626493.2:c.196G>A | ENSP00000486692.1:p.Gly66Ser | |
| ENST00000635779.2:c.196G>A | ENSP00000489663.1:p.Gly66Ser | |
| ENST00000635971.2:c.196G>A | ENSP00000489878.2:p.Gly66Ser | |
| ENST00000636200.2:c.196G>A | ENSP00000490113.2:p.Gly66Ser | |
| ENST00000637101.2:c.196G>A | ENSP00000490704.1:p.Gly66Ser | |
| ENST00000637104.2:c.196G>A | ENSP00000490019.2:p.Gly66Ser | |
| ENST00000637323.2:c.196G>A | ENSP00000489659.2:p.Gly66Ser | |
| ENST00000637420.2:c.196G>A | ENSP00000490404.2:p.Gly66Ser | |
| ENST00000637738.2:c.196G>A | ENSP00000490742.2:p.Gly66Ser | |
| ENST00000638119.2:c.196G>A | ENSP00000490026.1:p.Gly66Ser | |
| ENST00000674660.1:c.196G>A | ENSP00000502562.1:p.Gly66Ser | |
| ENST00000674688.1:n.226G>A | ||
| ENST00000674936.1:c.196G>A | ENSP00000502484.1:p.Gly66Ser | |
| ENST00000675576.1:c.196G>A | ENSP00000502750.1:p.Gly66Ser | |
| ENST00000676080.1:c.196G>A | ENSP00000502706.1:p.Gly66Ser | |
| ENST00000361983.6:c.196G>A | ENSP00000354848.4:p.Gly66Ser | |
| ENST00000626493.1:c.196G>A | ENSP00000486692.1:p.Gly66Ser | |
| NM_015634.3:c.196G>A | NP_056449.1:p.Gly66Ser | |
| NM_015634.4:c.196G>A MANE Select | NP_056449.1:p.Gly66Ser |