Revel Score:
ENST00000343801
0.430
ENST00000400886
0.430
ENST00000292303 (MANE Select)
0.430
ENST00000445772
0.430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373470T>C , CM000665.2:g.46373470T>C | GRCh38 |
| NC_000003.11:g.46414961T>C , CM000665.1:g.46414961T>C | GRCh37 |
| NC_000003.10:g.46389965T>C | NCBI36 |
| NG_012637.1:g.8329T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.568T>C (CCR5) MANE Select | ENSP00000292303.4:p.Trp190Arg | |
| ENST00000292303.4:c.568T>C (CCR5) | ENSP00000292303.4:p.Trp190Arg | |
| ENST00000445772.1:c.568T>C (CCR5) | ENSP00000404881.1:p.Trp190Arg | |
| NM_000579.3:c.568T>C (CCR5) | NP_000570.1:p.Trp190Arg | |
| NM_001100168.1:c.568T>C (CCR5) | NP_001093638.1:p.Trp190Arg | |
| NR_125406.1:n.392-2053A>G (CCR5AS) | ||
| NM_000579.4:c.568T>C (CCR5) | NP_000570.1:p.Trp190Arg | |
| NM_001100168.2:c.568T>C (CCR5) | NP_001093638.1:p.Trp190Arg | |
| NM_001394783.1:c.568T>C (CCR5) MANE Select | NP_001381712.1:p.Trp190Arg |