Linked Data
ClinVar Variation Id:
321395
ClinVar RCV Id:
RCV000298738
dbSNP Id:
rs552688125
gnomAD v2:
16-89984758-A-G
gnomAD v3:
16-89918350-A-G
gnomAD v4:
16-89918350-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918350A>G , CM000678.2:g.89918350A>G | GRCh38 |
| NC_000016.9:g.89984758A>G , CM000678.1:g.89984758A>G | GRCh37 |
| NC_000016.8:g.88512259A>G | NCBI36 |
| NG_012026.1:g.5472A>G | |
| NG_027810.1:g.1342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-409+303A>G | ENSP00000492011.1:n.-409+303A>G | |
| ENST00000555147.1:c.-909A>G | ENSP00000451605.1:n.-909A>G | |
| ENST00000555427.1:c.-409+303A>G | ENSP00000451760.1:n.-409+303A>G | |
| NM_002386.3:c.-909A>G | NP_002377.4:n.-909A>G |