Linked Data
ClinVar Variation Id:
310146
dbSNP Id:
rs201235216
ExAC:
12:6465059 G / A
gnomAD v2:
12-6465059-G-A
gnomAD v3:
12-6355893-G-A
gnomAD v4:
12-6355893-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6355893G>A , CM000674.2:g.6355893G>A | GRCh38 |
| NC_000012.11:g.6465059G>A , CM000674.1:g.6465059G>A | GRCh37 |
| NC_000012.10:g.6335320G>A | NCBI36 |
| NG_011945.1:g.26465C>T | |
| NG_011945.2:g.26465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.876-13C>T MANE Select | ENSP00000228916.2:n.876-13C>T | |
| ENST00000228916.6:c.876-13C>T | ENSP00000228916.2:n.876-13C>T | |
| ENST00000338748.9:c.685-13C>T | ENSP00000345028.5:n.685-13C>T | |
| ENST00000360168.7:c.1053-13C>T | ENSP00000353292.3:n.1053-13C>T | |
| ENST00000396966.6:c.876-13C>T | ENSP00000380166.2:n.876-13C>T | |
| ENST00000536087.1:n.401C>T | ||
| ENST00000538979.5:n.285-13C>T | ||
| ENST00000540037.5:c.-25-13C>T | ENSP00000440876.1:n.-25-13C>T | |
| ENST00000541249.5:n.123-13C>T | ||
| ENST00000542966.1:n.358-13C>T | ||
| ENST00000543768.1:c.945-13C>T | ENSP00000438739.1:n.945-13C>T | |
| NM_001038.5:c.876-13C>T | NP_001029.1:n.876-13C>T | |
| NM_001159575.1:c.945-13C>T | NP_001153047.1:n.945-13C>T | |
| NM_001159576.1:c.1053-13C>T | NP_001153048.1:n.1053-13C>T | |
| NM_001038.6:c.876-13C>T MANE Select | NP_001029.1:n.876-13C>T | |
| NM_001159576.2:c.1053-13C>T | NP_001153048.1:n.1053-13C>T | |
| NM_001159575.2:c.945-13C>T | NP_001153047.1:n.945-13C>T |