Linked Data
ClinVar Variation Id:
242676
ClinVar RCV Id:
RCV000034117
dbSNP Id:
rs267606540
gnomAD v3:
11-67482939-G-A
gnomAD v4:
11-67482939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67482939G>A , CM000673.2:g.67482939G>A | GRCh38 |
| NC_000011.9:g.67250410G>A , CM000673.1:g.67250410G>A | GRCh37 |
| NC_000011.8:g.67006986G>A | NCBI36 |
| NG_008969.1:g.4906G>A , LRG_460:g.4906G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682699.1:c.-220G>A | ENSP00000507935.1:n.-220G>A | |
| XM_024448761.1:c.-220G>A | XP_024304529.1:n.-220G>A |