Linked Data
ClinVar Variation Id:
92509
dbSNP Id:
rs34362748
ExAC:
14:88442712 C / T
gnomAD v2:
14-88442712-C-T
gnomAD v3:
14-87976368-C-T
gnomAD v4:
14-87976368-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976368C>T , CM000676.2:g.87976368C>T | GRCh38 |
| NC_000014.8:g.88442712C>T , CM000676.1:g.88442712C>T | GRCh37 |
| NC_000014.7:g.87512465C>T | NCBI36 |
| NG_011853.2:g.22196G>A | |
| NG_011853.3:g.22196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.742G>A MANE Select | ENSP00000261304.2:p.Asp248Asn | |
| ENST00000261304.6:c.742G>A | ENSP00000261304.2:p.Asp248Asn | |
| ENST00000393568.8:c.673G>A | ENSP00000377198.4:p.Asp225Asn | |
| ENST00000393569.6:c.664G>A | ENSP00000377199.2:p.Asp222Asn | |
| ENST00000474294.6:n.732G>A | ||
| ENST00000477716.3:n.497G>A | ||
| ENST00000544807.6:c.574G>A | ENSP00000437513.2:p.Asp192Asn | |
| ENST00000554916.5:n.621G>A | ||
| ENST00000555000.5:c.109G>A | ENSP00000450472.1:p.Asp37Asn | |
| ENST00000557316.5:c.*140G>A | ENSP00000452314.1:n.*140G>A | |
| ENST00000622264.4:c.732G>A | ||
| NM_000153.3:c.742G>A | NP_000144.2:p.Asp248Asn | |
| NM_001201401.1:c.673G>A | NP_001188330.1:p.Asp225Asn | |
| NM_001201402.1:c.664G>A | NP_001188331.1:p.Asp222Asn | |
| XM_011536618.1:c.574G>A | XP_011534920.1:p.Asp192Asn | |
| XM_011536618.2:c.574G>A | XP_011534920.1:p.Asp192Asn | |
| NM_000153.4:c.742G>A MANE Select | NP_000144.2:p.Asp248Asn | |
| NM_001201401.2:c.673G>A | NP_001188330.1:p.Asp225Asn | |
| NM_001201402.2:c.664G>A | NP_001188331.1:p.Asp222Asn |