Linked Data
ClinVar Variation Id:
292255
dbSNP Id:
rs376207606
ExAC:
1:119958055 T / A
gnomAD v2:
1-119958055-T-A
gnomAD v3:
1-119415432-T-A
gnomAD v4:
1-119415432-T-A
COSMIC:
COSM5016820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119415432T>A , CM000663.2:g.119415432T>A | GRCh38 |
| NC_000001.10:g.119958055T>A , CM000663.1:g.119958055T>A | GRCh37 |
| NC_000001.9:g.119759578T>A | NCBI36 |
| NG_013349.1:g.5502T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.13T>A MANE Select | ENSP00000358424.3:p.Cys5Ser | |
| ENST00000369416.3:c.13T>A | ENSP00000358424.3:p.Cys5Ser | |
| ENST00000433745.5:c.13T>A | ENSP00000388292.1:p.Cys5Ser | |
| ENST00000443865.2:n.142T>A | ||
| ENST00000471656.5:n.154T>A | ||
| ENST00000543831.5:c.13T>A | ENSP00000445122.1:p.Cys5Ser | |
| NM_000198.3:c.13T>A | NP_000189.1:p.Cys5Ser | |
| NM_001166120.1:c.13T>A | NP_001159592.1:p.Cys5Ser | |
| NM_000198.4:c.13T>A MANE Select | NP_000189.1:p.Cys5Ser | |
| NM_001166120.2:c.13T>A | NP_001159592.1:p.Cys5Ser |