Linked Data
ClinVar Variation Id:
293481
ClinVar RCV Id:
RCV000397929
dbSNP Id:
rs3885717
ExAC:
1:168282261 T / A
gnomAD v2:
1-168282261-T-A
gnomAD v3:
1-168313023-T-A
gnomAD v4:
1-168313023-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168313023T>A , CM000663.2:g.168313023T>A | GRCh38 |
| NC_000001.10:g.168282261T>A , CM000663.1:g.168282261T>A | GRCh37 |
| NC_000001.9:g.166548885T>A | NCBI36 |
| NG_008244.1:g.36984T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.*21T>A MANE Select | ENSP00000356795.3:n.*21T>A | |
| ENST00000367821.7:c.*21T>A | ENSP00000356795.3:n.*21T>A | |
| ENST00000431969.5:c.976T>A | ||
| ENST00000441464.1:c.865T>A | ||
| ENST00000465440.1:n.1177T>A | ||
| NM_005149.2:c.*21T>A | NP_005140.1:n.*21T>A | |
| NM_005149.3:c.*21T>A MANE Select | NP_005140.1:n.*21T>A |