Linked Data
ClinVar Variation Id:
8187
ClinVar RCV Id:
RCV000008669
dbSNP Id:
rs1800944
ExAC:
3:46415397 C / T
gnomAD v2:
3-46415397-C-T
gnomAD v3:
3-46373906-C-T
gnomAD v4:
3-46373906-C-T
PubMed:
PMID:9207783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373906C>T , CM000665.2:g.46373906C>T | GRCh38 |
| NC_000003.11:g.46415397C>T , CM000665.1:g.46415397C>T | GRCh37 |
| NC_000003.10:g.46390401C>T | NCBI36 |
| NG_012637.1:g.8765C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292303.5:c.1004C>T (CCR5) MANE Select | ENSP00000292303.4:p.Ala335Val | |
| ENST00000292303.4:c.1004C>T (CCR5) | ENSP00000292303.4:p.Ala335Val | |
| ENST00000445772.1:c.1004C>T (CCR5) | ENSP00000404881.1:p.Ala335Val | |
| NM_000579.3:c.1004C>T (CCR5) | NP_000570.1:p.Ala335Val | |
| NM_001100168.1:c.1004C>T (CCR5) | NP_001093638.1:p.Ala335Val | |
| NR_125406.1:n.392-2489G>A (CCR5AS) | ||
| NM_000579.4:c.1004C>T (CCR5) | NP_000570.1:p.Ala335Val | |
| NM_001100168.2:c.1004C>T (CCR5) | NP_001093638.1:p.Ala335Val | |
| NM_001394783.1:c.1004C>T (CCR5) MANE Select | NP_001381712.1:p.Ala335Val |