Linked Data
dbSNP Id:
rs34418657
ExAC:
3:46414784 G / A
gnomAD v2:
3-46414784-G-A
gnomAD v3:
3-46373293-G-A
gnomAD v4:
3-46373293-G-A
COSMIC:
COSM3670328
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373293G>A , CM000665.2:g.46373293G>A | GRCh38 |
| NC_000003.11:g.46414784G>A , CM000665.1:g.46414784G>A | GRCh37 |
| NC_000003.10:g.46389788G>A | NCBI36 |
| NG_012637.1:g.8152G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292303.5:c.391G>A (CCR5) MANE Select | ENSP00000292303.4:p.Val131Ile | |
| ENST00000292303.4:c.391G>A (CCR5) | ENSP00000292303.4:p.Val131Ile | |
| ENST00000445772.1:c.391G>A (CCR5) | ENSP00000404881.1:p.Val131Ile | |
| NM_000579.3:c.391G>A (CCR5) | NP_000570.1:p.Val131Ile | |
| NM_001100168.1:c.391G>A (CCR5) | NP_001093638.1:p.Val131Ile | |
| NR_125406.1:n.392-1876C>T (CCR5AS) | ||
| NM_000579.4:c.391G>A (CCR5) | NP_000570.1:p.Val131Ile | |
| NM_001100168.2:c.391G>A (CCR5) | NP_001093638.1:p.Val131Ile | |
| NM_001394783.1:c.391G>A (CCR5) MANE Select | NP_001381712.1:p.Val131Ile |