Linked Data
dbSNP Id:
rs1399692133
gnomAD v2:
12-52886467-G-T
gnomAD v3:
12-52492683-G-T
gnomAD v4:
12-52492683-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492683G>T , CM000674.2:g.52492683G>T | GRCh38 |
| NC_000012.11:g.52886467G>T , CM000674.1:g.52886467G>T | GRCh37 |
| NC_000012.10:g.51172734G>T | NCBI36 |
| NG_008298.1:g.5715C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.506C>A MANE Select | ENSP00000369317.3:p.Thr169Asn | |
| ENST00000330722.6:c.506C>A | ENSP00000369317.3:p.Thr169Asn | |
| ENST00000549898.5:n.27C>A | ||
| NM_005554.3:c.506C>A | NP_005545.1:p.Thr169Asn | |
| NM_005554.4:c.506C>A MANE Select | NP_005545.1:p.Thr169Asn |