Linked Data
ClinVar Variation Id:
1268484
ClinVar RCV Id:
RCV001685810
dbSNP Id:
rs705381
gnomAD v2:
7-94953949-T-C
gnomAD v3:
7-95324637-T-C
gnomAD v4:
7-95324637-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324637T>C , CM000669.2:g.95324637T>C | GRCh38 |
| NC_000007.13:g.94953949T>C , CM000669.1:g.94953949T>C | GRCh37 |
| NC_000007.12:g.94791885T>C | NCBI36 |
| NG_008779.1:g.4936A>G | |
| NG_008779.2:g.5070A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.7:c.-162A>G | ENSP00000222381.3:n.-162A>G | |
| NM_000446.6:c.-162A>G | NP_000437.3:n.-162A>G |