Linked Data
ClinVar Variation Id:
361183
dbSNP Id:
rs2290707
gnomAD v2:
8-103251255-C-A
gnomAD v3:
8-102239027-C-A
gnomAD v4:
8-102239027-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102239027C>A , CM000670.2:g.102239027C>A | GRCh38 |
| NC_000008.10:g.103251255C>A , CM000670.1:g.103251255C>A | GRCh37 |
| NC_000008.9:g.103320431C>A | NCBI36 |
| NG_016617.1:g.5092G>T , LRG_788:g.5092G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251810.7:c.-153G>T | ENSP00000251810.3:n.-153G>T | |
| NM_001172478.1:c.-153G>T | NP_001165949.1:n.-153G>T | |
| NM_015713.4:c.-153G>T , LRG_788t2:c.-153G>T | NP_056528.2:n.-153G>T |