Revel Score:
ENST00000343801
0.183
ENST00000400886
0.183
ENST00000292303 (MANE Select)
0.183
ENST00000445772
0.183
gnomAD v4:
Joint Max Group AF
0.00001854 (NFE)
Exomes Max Group AF
0.00001969 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373468T>C , CM000665.2:g.46373468T>C | GRCh38 |
| NC_000003.11:g.46414959T>C , CM000665.1:g.46414959T>C | GRCh37 |
| NC_000003.10:g.46389963T>C | NCBI36 |
| NG_012637.1:g.8327T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.566T>C (CCR5) MANE Select | ENSP00000292303.4:p.Phe189Ser | |
| ENST00000292303.4:c.566T>C (CCR5) | ENSP00000292303.4:p.Phe189Ser | |
| ENST00000445772.1:c.566T>C (CCR5) | ENSP00000404881.1:p.Phe189Ser | |
| NM_000579.3:c.566T>C (CCR5) | NP_000570.1:p.Phe189Ser | |
| NM_001100168.1:c.566T>C (CCR5) | NP_001093638.1:p.Phe189Ser | |
| NR_125406.1:n.392-2051A>G (CCR5AS) | ||
| NM_000579.4:c.566T>C (CCR5) | NP_000570.1:p.Phe189Ser | |
| NM_001100168.2:c.566T>C (CCR5) | NP_001093638.1:p.Phe189Ser | |
| NM_001394783.1:c.566T>C (CCR5) MANE Select | NP_001381712.1:p.Phe189Ser |