Linked Data
ClinVar Variation Id:
310149
dbSNP Id:
rs142409152
ExAC:
12:6471346 C / T
gnomAD v2:
12-6471346-C-T
gnomAD v3:
12-6362180-C-T
gnomAD v4:
12-6362180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6362180C>T , CM000674.2:g.6362180C>T | GRCh38 |
| NC_000012.11:g.6471346C>T , CM000674.1:g.6471346C>T | GRCh37 |
| NC_000012.10:g.6341607C>T | NCBI36 |
| NG_011945.1:g.20178G>A | |
| NG_011945.2:g.20178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.746G>A MANE Select | ENSP00000228916.2:p.Arg249Lys | |
| ENST00000228916.6:c.746G>A | ENSP00000228916.2:p.Arg249Lys | |
| ENST00000338748.9:c.684+1263G>A | ENSP00000345028.5:n.684+1263G>A | |
| ENST00000360168.7:c.923G>A | ENSP00000353292.3:p.Arg308Lys | |
| ENST00000396966.6:c.746G>A | ENSP00000380166.2:p.Arg249Lys | |
| ENST00000538979.5:n.83-5786G>A | ||
| ENST00000540037.5:c.-138G>A | ENSP00000440876.1:n.-138G>A | |
| ENST00000542966.1:n.245G>A | ||
| ENST00000543768.1:c.815G>A | ENSP00000438739.1:p.Arg272Lys | |
| NM_001038.5:c.746G>A | NP_001029.1:p.Arg249Lys | |
| NM_001159575.1:c.815G>A | NP_001153047.1:p.Arg272Lys | |
| NM_001159576.1:c.923G>A | NP_001153048.1:p.Arg308Lys | |
| NM_001038.6:c.746G>A MANE Select | NP_001029.1:p.Arg249Lys | |
| NM_001159576.2:c.923G>A | NP_001153048.1:p.Arg308Lys | |
| NM_001159575.2:c.815G>A | NP_001153047.1:p.Arg272Lys |