Linked Data
ClinVar Variation Id:
3490
dbSNP Id:
rs28941778
gnomAD v2:
11-32413560-C-T
gnomAD v4:
11-32392014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392014C>T , CM000673.2:g.32392014C>T | GRCh38 |
| NC_000011.9:g.32413560C>T , CM000673.1:g.32413560C>T | GRCh37 |
| NC_000011.8:g.32370136C>T | NCBI36 |
| NG_009272.1:g.48528G>A , LRG_525:g.48528G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1354G>A | ENSP00000331327.5:p.Asp452Asn | |
| ENST00000379077.9:c.*589G>A | ENSP00000368368.5:n.*589G>A | |
| ENST00000379079.8:c.754G>A | ENSP00000368370.2:p.Asp252Asn | |
| ENST00000448076.9:c.1405G>A | ENSP00000413452.5:p.Asp469Asn | |
| ENST00000452863.10:c.1405G>A MANE Select | ENSP00000415516.5:p.Asp469Asn | |
| ENST00000526685.2:n.859G>A | ||
| ENST00000639563.3:c.1354G>A | ENSP00000492269.3:p.Asp452Asn | |
| ENST00000639907.2:n.548G>A | ||
| ENST00000640146.2:c.730G>A | ENSP00000491984.2:p.Asp244Asn | |
| ENST00000650745.1:n.1215G>A | ||
| ENST00000650861.1:n.1986G>A | ||
| ENST00000650986.1:n.68G>A | ||
| ENST00000651459.1:c.176G>A | ||
| ENST00000651533.1:n.451G>A | ||
| ENST00000651668.1:n.342G>A | ||
| ENST00000651794.1:n.1248G>A | ||
| ENST00000651819.1:n.330G>A | ||
| ENST00000652579.1:n.665G>A | ||
| ENST00000652724.1:n.595G>A | ||
| ENST00000332351.7:c.1390G>A | ENSP00000331327.3:p.Asp464Asn | |
| ENST00000379077.7:c.*589G>A | ENSP00000368368.3:n.*589G>A | |
| ENST00000379079.6:c.754G>A | ENSP00000368370.2:p.Asp252Asn | |
| ENST00000448076.7:c.1390G>A | ENSP00000413452.3:p.Asp464Asn | |
| ENST00000452863.7:c.1339G>A | ENSP00000415516.3:p.Asp447Asn | |
| ENST00000527882.5:c.371G>A | ||
| ENST00000530998.5:c.703G>A | ENSP00000435307.1:p.Asp235Asn | |
| NM_000378.4:c.1339G>A | NP_000369.3:p.Asp447Asn | |
| NM_001198551.1:c.754G>A , LRG_525t2:c.754G>A | NP_001185480.1:p.Asp252Asn | |
| NM_001198552.1:c.703G>A | NP_001185481.1:p.Asp235Asn | |
| NM_024424.3:c.1390G>A | NP_077742.2:p.Asp464Asn | |
| NM_024426.4:c.1390G>A | NP_077744.3:p.Asp464Asn | |
| NM_000378.5:c.1354G>A | NP_000369.4:p.Asp452Asn | |
| NM_024424.4:c.1405G>A | NP_077742.3:p.Asp469Asn | |
| NM_024426.5:c.1405G>A | NP_077744.4:p.Asp469Asn | |
| NM_001367854.1:c.217G>A | NP_001354783.1:p.Asp73Asn | |
| NR_160306.1:n.1737G>A | ||
| NM_000378.6:c.1354G>A | NP_000369.4:p.Asp452Asn | |
| NM_001198552.2:c.703G>A | NP_001185481.1:p.Asp235Asn | |
| NM_024424.5:c.1405G>A | NP_077742.3:p.Asp469Asn | |
| NM_024426.6:c.1405G>A MANE Select | NP_077744.4:p.Asp469Asn |