Linked Data
ClinVar Variation Id:
517465
dbSNP Id:
rs1396310498
gnomAD v2:
11-17575020-C-A
gnomAD v4:
11-17553473-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553473C>A , CM000673.2:g.17553473C>A | GRCh38 |
| NC_000011.9:g.17575020C>A , CM000673.1:g.17575020C>A | GRCh37 |
| NC_000011.8:g.17531596C>A | NCBI36 |
| NG_033191.1:g.11101C>A | |
| NG_033191.2:g.11101C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.530C>A | ENSP00000382323.2:p.Thr177Asn | |
| ENST00000399397.6:c.494C>A MANE Select | ENSP00000382329.2:p.Thr165Asn | |
| ENST00000399391.6:c.530C>A | ENSP00000382323.2:p.Thr177Asn | |
| ENST00000399397.5:c.494C>A | ENSP00000382329.2:p.Thr165Asn | |
| ENST00000498332.5:n.400C>A | ||
| NM_001277269.1:c.530C>A | NP_001264198.1:p.Thr177Asn | |
| NM_001292063.1:c.494C>A | NP_001278992.1:p.Thr165Asn | |
| NM_001277269.2:c.530C>A | NP_001264198.1:p.Thr177Asn | |
| NM_001292063.2:c.494C>A MANE Select | NP_001278992.1:p.Thr165Asn |