Linked Data
dbSNP Id:
rs773818071
ExAC:
3:46414768 T / A
gnomAD v2:
3-46414768-T-A
gnomAD v4:
3-46373277-T-A
COSMIC:
COSM319324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373277T>A , CM000665.2:g.46373277T>A | GRCh38 |
| NC_000003.11:g.46414768T>A , CM000665.1:g.46414768T>A | GRCh37 |
| NC_000003.10:g.46389772T>A | NCBI36 |
| NG_012637.1:g.8136T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292303.5:c.375T>A (CCR5) MANE Select | ENSP00000292303.4:p.Asp125Glu | |
| ENST00000292303.4:c.375T>A (CCR5) | ENSP00000292303.4:p.Asp125Glu | |
| ENST00000445772.1:c.375T>A (CCR5) | ENSP00000404881.1:p.Asp125Glu | |
| NM_000579.3:c.375T>A (CCR5) | NP_000570.1:p.Asp125Glu | |
| NM_001100168.1:c.375T>A (CCR5) | NP_001093638.1:p.Asp125Glu | |
| NR_125406.1:n.392-1860A>T (CCR5AS) | ||
| NM_000579.4:c.375T>A (CCR5) | NP_000570.1:p.Asp125Glu | |
| NM_001100168.2:c.375T>A (CCR5) | NP_001093638.1:p.Asp125Glu | |
| NM_001394783.1:c.375T>A (CCR5) MANE Select | NP_001381712.1:p.Asp125Glu |