Linked Data
ClinVar Variation Id:
188279
ClinVar RCV Id:
RCV000168261
RCV000236619
RCV000567416
RCV001312225
RCV002281990
RCV002312698
RCV003316069
dbSNP Id:
rs138800446
ExAC:
18:48581217 C / A
gnomAD v2:
18-48581217-C-A
gnomAD v3:
18-51054847-C-A
gnomAD v4:
18-51054847-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51054847C>A , CM000680.2:g.51054847C>A | GRCh38 |
| NC_000018.9:g.48581217C>A , CM000680.1:g.48581217C>A | GRCh37 |
| NC_000018.8:g.46835215C>A | NCBI36 |
| NG_013013.2:g.91808C>A , LRG_318:g.91808C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.521C>A | ENSP00000465878.2:p.Thr174Asn | |
| ENST00000589076.6:c.521C>A | ENSP00000466934.2:p.Thr174Asn | |
| ENST00000589941.2:c.521C>A | ENSP00000465874.2:p.Thr174Asn | |
| ENST00000590061.2:c.521C>A | ENSP00000464772.2:p.Thr174Asn | |
| ENST00000593223.2:c.521C>A | ENSP00000466118.2:p.Thr174Asn | |
| ENST00000611848.2:c.521C>A | ENSP00000478613.2:p.Thr174Asn | |
| ENST00000684953.1:n.1893C>A | ||
| ENST00000688307.1:n.9C>A | ||
| ENST00000342988.8:c.521C>A MANE Select | ENSP00000341551.3:p.Thr174Asn | |
| ENST00000342988.7:c.521C>A | ENSP00000341551.3:p.Thr174Asn | |
| ENST00000398417.6:c.521C>A | ENSP00000381452.1:p.Thr174Asn | |
| ENST00000585448.1:n.390C>A | ||
| ENST00000588745.5:c.521C>A | ENSP00000464901.1:p.Thr174Asn | |
| ENST00000590722.2:c.*697C>A | ENSP00000465737.1:n.*697C>A | |
| ENST00000591126.5:n.2522C>A | ||
| ENST00000592186.5:c.521C>A | ENSP00000468611.1:p.Thr174Asn | |
| ENST00000592911.5:n.299C>A | ||
| NM_005359.5:c.521C>A , LRG_318t1:c.521C>A | NP_005350.1:p.Thr174Asn | |
| NM_005359.6:c.521C>A MANE Select | NP_005350.1:p.Thr174Asn |