Linked Data
dbSNP Id:
rs748501160
ExAC:
6:32007215 C / A
gnomAD v2:
6-32007215-C-A
gnomAD v4:
6-32039438-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039438C>A , CM000668.2:g.32039438C>A | GRCh38 |
| NC_000006.11:g.32007215C>A , CM000668.1:g.32007215C>A | GRCh37 |
| NC_000006.10:g.32115194C>A | NCBI36 |
| NG_007941.2:g.6131C>A | |
| NG_008337.2:g.74937G>T | |
| NG_007941.3:g.6134C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.530C>A MANE Select | ENSP00000496625.1:p.Thr177Asn | |
| ENST00000418967.6:c.530C>A | ENSP00000408860.2:p.Thr177Asn | |
| ENST00000435122.3:c.440C>A | ENSP00000415043.2:p.Thr147Asn | |
| ENST00000462278.1:n.118C>A | ||
| ENST00000464325.5:n.451C>A | ||
| ENST00000466779.5:c.*222C>A | ENSP00000417321.1:n.*222C>A | |
| ENST00000466879.5:n.581C>A | ||
| ENST00000469053.5:c.*222C>A | ENSP00000418104.1:n.*222C>A | |
| ENST00000471671.4:c.530C>A | ENSP00000418561.1:p.Thr177Asn | |
| ENST00000479074.5:n.588C>A | ||
| ENST00000479730.5:n.685C>A | ||
| ENST00000483041.5:n.699C>A | ||
| ENST00000486063.5:n.710C>A | ||
| ENST00000488465.1:n.538C>A | ||
| NM_000500.7:c.530C>A | NP_000491.4:p.Thr177Asn | |
| NM_001128590.3:c.440C>A | NP_001122062.3:p.Thr147Asn | |
| XM_011514314.1:c.125C>A | XP_011512616.1:p.Thr42Asn | |
| NM_000500.9:c.530C>A MANE Select | NP_000491.4:p.Thr177Asn | |
| NM_001368143.1:c.125C>A | NP_001355072.1:p.Thr42Asn | |
| NM_001368144.1:c.125C>A | NP_001355073.1:p.Thr42Asn | |
| NM_001128590.4:c.440C>A | NP_001122062.3:p.Thr147Asn | |
| NM_001368143.2:c.125C>A | NP_001355072.1:p.Thr42Asn | |
| NM_001368144.2:c.125C>A | NP_001355073.1:p.Thr42Asn |