Linked Data
dbSNP Id:
rs775289875
ExAC:
3:46415174 C / T
gnomAD v2:
3-46415174-C-T
gnomAD v3:
3-46373683-C-T
gnomAD v4:
3-46373683-C-T
COSMIC:
COSM4508615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373683C>T , CM000665.2:g.46373683C>T | GRCh38 |
| NC_000003.11:g.46415174C>T , CM000665.1:g.46415174C>T | GRCh37 |
| NC_000003.10:g.46390178C>T | NCBI36 |
| NG_012637.1:g.8542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.781C>T (CCR5) MANE Select | ENSP00000292303.4:p.Gln261Ter | |
| ENST00000292303.4:c.781C>T (CCR5) | ENSP00000292303.4:p.Gln261Ter | |
| ENST00000445772.1:c.781C>T (CCR5) | ENSP00000404881.1:p.Gln261Ter | |
| NM_000579.3:c.781C>T (CCR5) | NP_000570.1:p.Gln261Ter | |
| NM_001100168.1:c.781C>T (CCR5) | NP_001093638.1:p.Gln261Ter | |
| NR_125406.1:n.392-2266G>A (CCR5AS) | ||
| NM_000579.4:c.781C>T (CCR5) | NP_000570.1:p.Gln261Ter | |
| NM_001100168.2:c.781C>T (CCR5) | NP_001093638.1:p.Gln261Ter | |
| NM_001394783.1:c.781C>T (CCR5) MANE Select | NP_001381712.1:p.Gln261Ter |