Linked Data
ClinVar Variation Id:
1921530
ClinVar RCV Id:
RCV002621369
dbSNP Id:
rs771100664
ExAC:
1:1471194 G / A
gnomAD v2:
1-1471194-G-A
gnomAD v3:
1-1535814-G-A
gnomAD v4:
1-1535814-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535814G>A , CM000663.2:g.1535814G>A | GRCh38 |
| NC_000001.10:g.1471194G>A , CM000663.1:g.1471194G>A | GRCh37 |
| NC_000001.9:g.1461057G>A | NCBI36 |
| NG_041807.1:g.9547C>T | |
| NG_053035.1:g.28672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.165-17C>T MANE Select | ENSP00000368007.4:n.165-17C>T | |
| ENST00000378733.8:c.165-17C>T | ENSP00000368007.4:n.165-17C>T | |
| ENST00000425828.1:c.165-17C>T | ENSP00000400311.1:n.165-17C>T | |
| NM_001114748.1:c.165-17C>T | NP_001108220.1:n.165-17C>T | |
| NM_001114748.2:c.165-17C>T MANE Select | NP_001108220.1:n.165-17C>T |