Linked Data
ClinVar Variation Id:
321392
ClinVar RCV Id:
RCV000311545
dbSNP Id:
rs886052497
gnomAD v2:
16-89984679-A-C
gnomAD v3:
16-89918271-A-C
gnomAD v4:
16-89918271-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918271A>C , CM000678.2:g.89918271A>C | GRCh38 |
| NC_000016.9:g.89984679A>C , CM000678.1:g.89984679A>C | GRCh37 |
| NC_000016.8:g.88512180A>C | NCBI36 |
| NG_012026.1:g.5393A>C | |
| NG_027810.1:g.1263A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-409+224A>C | ENSP00000492011.1:n.-409+224A>C | |
| ENST00000555147.1:c.-988A>C | ENSP00000451605.1:n.-988A>C | |
| ENST00000555427.1:c.-409+224A>C | ENSP00000451760.1:n.-409+224A>C | |
| NM_002386.3:c.-988A>C | NP_002377.4:n.-988A>C |