Linked Data
ClinVar Variation Id:
322550
ClinVar RCV Id:
RCV000322648
dbSNP Id:
rs25533
gnomAD v2:
17-28562892-A-G
gnomAD v3:
17-30235874-A-G
gnomAD v4:
17-30235874-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30235874A>G , CM000679.2:g.30235874A>G | GRCh38 |
| NC_000017.10:g.28562892A>G , CM000679.1:g.28562892A>G | GRCh37 |
| NC_000017.9:g.25587018A>G | NCBI36 |
| NG_011747.2:g.5063T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261707.7:c.-482T>C | ENSP00000261707.3:n.-482T>C | |
| ENST00000401766.6:c.-385T>C | ENSP00000385822.2:n.-385T>C | |
| NM_001045.5:c.-482T>C | NP_001036.1:n.-482T>C |