Linked Data
ClinVar Variation Id:
8189
dbSNP Id:
rs1799987
gnomAD v2:
3-46411935-A-G
gnomAD v3:
3-46370444-A-G
gnomAD v4:
3-46370444-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46370444A>G , CM000665.2:g.46370444A>G | GRCh38 |
| NC_000003.11:g.46411935A>G , CM000665.1:g.46411935A>G | GRCh37 |
| NC_000003.10:g.46386939A>G | NCBI36 |
| NG_012637.1:g.5303A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000579.3:c.-301+246A>G (CCR5) | NP_000570.1:n.-301+246A>G | |
| NM_001100168.1:c.-66+246A>G (CCR5) | NP_001093638.1:n.-66+246A>G | |
| NR_125406.1:n.565+800T>C (CCR5AS) | ||
| NM_000579.4:c.-301+246A>G (CCR5) | NP_000570.1:n.-301+246A>G | |
| NM_001100168.2:c.-66+246A>G (CCR5) | NP_001093638.1:n.-66+246A>G |