Linked Data
ClinVar Variation Id:
347122
dbSNP Id:
rs886058979
gnomAD v2:
4-108910894-A-G
gnomAD v3:
4-107989738-A-G
gnomAD v4:
4-107989738-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107989738A>G , CM000666.2:g.107989738A>G | GRCh38 |
| NC_000004.11:g.108910894A>G , CM000666.1:g.108910894A>G | GRCh37 |
| NC_000004.10:g.109130343A>G | NCBI36 |
| NG_008156.2:g.4955A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505878.4:c.-18A>G | ENSP00000425952.2:n.-18A>G | |
| ENST00000403312.5:c.-18A>G | ENSP00000385638.2:n.-18A>G | |
| ENST00000603302.5:c.-195A>G | ENSP00000474560.1:n.-195A>G | |
| NM_001184705.2:c.-195A>G | NP_001171634.2:n.-195A>G | |
| NM_005327.4:c.-195A>G | NP_005318.3:n.-195A>G |