Linked Data
ClinVar Variation Id:
829326
ClinVar RCV Id:
RCV001029247
dbSNP Id:
rs2214102
ExAC:
7:87229501 T / C
gnomAD v2:
7-87229501-T-C
gnomAD v3:
7-87600185-T-C
gnomAD v4:
7-87600185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87600185T>C , CM000669.2:g.87600185T>C | GRCh38 |
| NC_000007.13:g.87229501T>C , CM000669.1:g.87229501T>C | GRCh37 |
| NC_000007.12:g.87067437T>C | NCBI36 |
| NG_011513.1:g.118064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.-1A>G | ENSP00000265724.3:n.-1A>G | |
| ENST00000622132.5:c.-1A>G MANE Select | ENSP00000478255.1:n.-1A>G | |
| ENST00000265724.7:c.-1A>G | ENSP00000265724.3:n.-1A>G | |
| ENST00000416177.1:c.-1A>G | ENSP00000399419.1:n.-1A>G | |
| ENST00000543898.5:c.-1A>G | ENSP00000444095.1:n.-1A>G | |
| ENST00000622132.4:c.-1A>G | ENSP00000478255.1:n.-1A>G | |
| NM_000927.4:c.-1A>G | NP_000918.2:n.-1A>G | |
| NM_001348944.1:c.-1A>G | NP_001335873.1:n.-1A>G | |
| NM_001348945.1:c.210A>G | NP_001335874.1:p.Gly70= | |
| NM_001348946.1:c.-1A>G | NP_001335875.1:n.-1A>G | |
| NM_001348946.2:c.-1A>G MANE Select | NP_001335875.1:n.-1A>G | |
| NM_000927.5:c.-1A>G | NP_000918.2:n.-1A>G | |
| NM_001348944.2:c.-1A>G | NP_001335873.1:n.-1A>G | |
| NM_001348945.2:c.210A>G | NP_001335874.1:p.Gly70= |