Linked Data
ClinVar Variation Id:
924142
dbSNP Id:
rs751490881
gnomAD v3:
18-31522236-C-A
gnomAD v4:
18-31522236-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522236C>A , CM000680.2:g.31522236C>A | GRCh38 |
| NC_000018.9:g.29102199C>A , CM000680.1:g.29102199C>A | GRCh37 |
| NC_000018.8:g.27356197C>A | NCBI36 |
| NG_007072.3:g.28995C>A , LRG_397:g.28995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.508C>A | ||
| ENST00000682241.2:c.677C>A | ENSP00000507600.2:p.Thr226Asn | |
| ENST00000683614.2:n.508C>A | ||
| ENST00000682087.1:c.508C>A | ||
| ENST00000682241.1:c.508C>A | ||
| ENST00000683614.1:c.508C>A | ||
| ENST00000683654.1:c.677C>A | ENSP00000506971.1:p.Thr226Asn | |
| ENST00000684461.1:n.1347C>A | ||
| ENST00000261590.13:c.677C>A MANE Select | ENSP00000261590.8:p.Thr226Asn | |
| ENST00000261590.12:c.677C>A | ENSP00000261590.8:p.Thr226Asn | |
| ENST00000585206.1:c.677C>A | ENSP00000462503.1:p.Thr226Asn | |
| NM_001943.3:c.677C>A , LRG_397t1:c.677C>A | NP_001934.2:p.Thr226Asn | |
| NM_001943.4:c.677C>A | NP_001934.2:p.Thr226Asn | |
| XM_024451095.1:c.143C>A | XP_024306863.1:p.Thr48Asn | |
| NM_001943.5:c.677C>A MANE Select | NP_001934.2:p.Thr226Asn |