Linked Data
dbSNP Id:
rs12630816
gnomAD v2:
3-25467748-C-T
gnomAD v3:
3-25426257-C-T
gnomAD v4:
3-25426257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25426257C>T , CM000665.2:g.25426257C>T | GRCh38 |
| NC_000003.11:g.25467748C>T , CM000665.1:g.25467748C>T | GRCh37 |
| NC_000003.10:g.25442752C>T | NCBI36 |
| NG_029013.1:g.2995C>T | |
| NG_029013.3:g.601935C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383772.9:c.179-34936C>T | ENSP00000373282.5:n.179-34936C>T | |
| ENST00000455576.2:c.179-34936C>T | ENSP00000508527.1:n.179-34936C>T | |
| ENST00000686715.1:c.179-34936C>T | ENSP00000510539.1:n.179-34936C>T | |
| ENST00000687353.1:c.179-34936C>T | ENSP00000508588.1:n.179-34936C>T | |
| ENST00000687676.1:c.179-34936C>T | ENSP00000510313.1:n.179-34936C>T | |
| ENST00000688892.1:c.179-34936C>T | ENSP00000510650.1:n.179-34936C>T | |
| ENST00000690398.1:c.179-34936C>T | ENSP00000510044.1:n.179-34936C>T | |
| ENST00000383772.8:c.179-34936C>T | ENSP00000373282.4:n.179-34936C>T | |
| NM_001290216.1:c.179-34936C>T | NP_001277145.1:n.179-34936C>T | |
| NM_001290300.1:c.29-34936C>T | NP_001277229.1:n.29-34936C>T | |
| NM_001290216.2:c.179-34936C>T | NP_001277145.1:n.179-34936C>T | |
| NM_001290216.3:c.179-34936C>T | NP_001277145.1:n.179-34936C>T | |
| NM_001290300.2:c.29-34936C>T | NP_001277229.1:n.29-34936C>T |