Linked Data
ClinVar Variation Id:
474205
dbSNP Id:
rs148791570
ExAC:
16:14016005 G / A
gnomAD v2:
16-14016005-G-A
gnomAD v3:
16-13922148-G-A
gnomAD v4:
16-13922148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13922148G>A , CM000678.2:g.13922148G>A | GRCh38 |
| NC_000016.9:g.14016005G>A , CM000678.1:g.14016005G>A | GRCh37 |
| NC_000016.8:g.13923506G>A | NCBI36 |
| NG_011442.1:g.6992G>A , LRG_463:g.6992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.313G>A | ||
| ENST00000682568.1:n.255G>A | ||
| ENST00000682617.1:c.325G>A | ENSP00000507912.1:p.Ala109Thr | |
| ENST00000682826.1:c.325G>A | ENSP00000507274.1:p.Ala109Thr | |
| ENST00000682909.1:n.334G>A | ||
| ENST00000683277.1:n.1970G>A | ||
| ENST00000683407.1:n.333G>A | ||
| ENST00000683962.1:c.325G>A | ENSP00000506854.1:p.Ala109Thr | |
| ENST00000311895.8:c.325G>A MANE Select | ENSP00000310520.7:p.Ala109Thr | |
| ENST00000311895.7:c.325G>A | ENSP00000310520.7:p.Ala109Thr | |
| ENST00000575156.5:c.325G>A | ENSP00000459933.1:p.Ala109Thr | |
| ENST00000576348.1:n.300G>A | ||
| NM_005236.2:c.325G>A , LRG_463t1:c.325G>A | NP_005227.1:p.Ala109Thr | |
| XM_011522424.1:c.325G>A | XP_011520726.1:p.Ala109Thr | |
| XR_932805.1:n.346G>A | ||
| XR_933098.1:n.82+4377C>T | ||
| XR_933099.1:n.82+4377C>T | ||
| XR_933100.1:n.82+4377C>T | ||
| XM_011522424.3:c.325G>A | XP_011520726.1:p.Ala109Thr | |
| XM_017023043.2:c.-613G>A | XP_016878532.1:n.-613G>A | |
| NM_005236.3:c.325G>A MANE Select | NP_005227.1:p.Ala109Thr |