Linked Data
ClinVar Variation Id:
8191
ClinVar RCV Id:
RCV000008673
dbSNP Id:
rs1800940
ExAC:
3:46414573 G / T
gnomAD v2:
3-46414573-G-T
gnomAD v3:
3-46373082-G-T
gnomAD v4:
3-46373082-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373082G>T , CM000665.2:g.46373082G>T | GRCh38 |
| NC_000003.11:g.46414573G>T , CM000665.1:g.46414573G>T | GRCh37 |
| NC_000003.10:g.46389577G>T | NCBI36 |
| NG_012637.1:g.7941G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292303.5:c.180G>T (CCR5) MANE Select | ENSP00000292303.4:p.Arg60Ser | |
| ENST00000292303.4:c.180G>T (CCR5) | ENSP00000292303.4:p.Arg60Ser | |
| ENST00000445772.1:c.180G>T (CCR5) | ENSP00000404881.1:p.Arg60Ser | |
| NM_000579.3:c.180G>T (CCR5) | NP_000570.1:p.Arg60Ser | |
| NM_001100168.1:c.180G>T (CCR5) | NP_001093638.1:p.Arg60Ser | |
| NR_125406.1:n.392-1665C>A (CCR5AS) | ||
| NM_000579.4:c.180G>T (CCR5) | NP_000570.1:p.Arg60Ser | |
| NM_001100168.2:c.180G>T (CCR5) | NP_001093638.1:p.Arg60Ser | |
| NM_001394783.1:c.180G>T (CCR5) MANE Select | NP_001381712.1:p.Arg60Ser |