Linked Data
ClinVar Variation Id:
208608
dbSNP Id:
rs774122562
ExAC:
12:56115253 G / A
gnomAD v2:
12-56115253-G-A
gnomAD v4:
12-55721469-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721469G>A , CM000674.2:g.55721469G>A | GRCh38 |
| NC_000012.11:g.56115253G>A , CM000674.1:g.56115253G>A | GRCh37 |
| NC_000012.10:g.54401520G>A | NCBI36 |
| NG_008606.1:g.6103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.285G>A MANE Select | ENSP00000257895.6:p.Trp95Ter | |
| ENST00000257895.9:c.285G>A | ENSP00000257895.5:p.Trp95Ter | |
| ENST00000257899.3:c.326-220G>A | ||
| ENST00000547072.5:c.-7G>A | ENSP00000449927.1:n.-7G>A | |
| ENST00000547301.1:n.199G>A | ||
| ENST00000548082.1:c.285G>A | ENSP00000447128.1:p.Trp95Ter | |
| ENST00000548123.1:c.275G>A | ||
| ENST00000548486.1:n.295G>A | ||
| ENST00000549424.1:c.118-220G>A | ENSP00000447621.1:n.118-220G>A | |
| ENST00000550412.5:c.352-220G>A | ENSP00000447650.1:n.352-220G>A | |
| ENST00000550608.1:n.424G>A | ||
| ENST00000551946.5:c.*114-220G>A | ENSP00000450201.1:n.*114-220G>A | |
| ENST00000552930.5:c.-7G>A | ENSP00000448014.1:n.-7G>A | |
| ENST00000553160.1:n.405+698G>A | ||
| ENST00000553187.5:n.295G>A | ||
| NM_001199771.1:c.285G>A | NP_001186700.1:p.Trp95Ter | |
| NM_002905.3:c.285G>A | NP_002896.2:p.Trp95Ter | |
| NR_037658.1:n.370-220G>A | ||
| NM_001199771.2:c.285G>A | NP_001186700.1:p.Trp95Ter | |
| NM_002905.5:c.285G>A MANE Select | NP_002896.2:p.Trp95Ter | |
| NM_001199771.3:c.285G>A | NP_001186700.1:p.Trp95Ter |