Linked Data
gnomAD v4:
11-17553487-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553487C>A , CM000673.2:g.17553487C>A | GRCh38 |
| NC_000011.9:g.17575034C>A , CM000673.1:g.17575034C>A | GRCh37 |
| NC_000011.8:g.17531610C>A | NCBI36 |
| NG_033191.1:g.11115C>A | |
| NG_033191.2:g.11115C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.544C>A | ENSP00000382323.2:p.His182Asn | |
| ENST00000399397.6:c.508C>A MANE Select | ENSP00000382329.2:p.His170Asn | |
| ENST00000399391.6:c.544C>A | ENSP00000382323.2:p.His182Asn | |
| ENST00000399397.5:c.508C>A | ENSP00000382329.2:p.His170Asn | |
| ENST00000498332.5:n.414C>A | ||
| NM_001277269.1:c.544C>A | NP_001264198.1:p.His182Asn | |
| NM_001292063.1:c.508C>A | NP_001278992.1:p.His170Asn | |
| NM_001277269.2:c.544C>A | NP_001264198.1:p.His182Asn | |
| NM_001292063.2:c.508C>A MANE Select | NP_001278992.1:p.His170Asn |