Linked Data
dbSNP Id:
rs764318467
ExAC:
3:46415394 G / A
gnomAD v2:
3-46415394-G-A
gnomAD v3:
3-46373903-G-A
gnomAD v4:
3-46373903-G-A
COSMIC:
COSM239215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373903G>A , CM000665.2:g.46373903G>A | GRCh38 |
| NC_000003.11:g.46415394G>A , CM000665.1:g.46415394G>A | GRCh37 |
| NC_000003.10:g.46390398G>A | NCBI36 |
| NG_012637.1:g.8762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.1001G>A (CCR5) MANE Select | ENSP00000292303.4:p.Arg334Gln | |
| ENST00000292303.4:c.1001G>A (CCR5) | ENSP00000292303.4:p.Arg334Gln | |
| ENST00000445772.1:c.1001G>A (CCR5) | ENSP00000404881.1:p.Arg334Gln | |
| NM_000579.3:c.1001G>A (CCR5) | NP_000570.1:p.Arg334Gln | |
| NM_001100168.1:c.1001G>A (CCR5) | NP_001093638.1:p.Arg334Gln | |
| NR_125406.1:n.392-2486C>T (CCR5AS) | ||
| NM_000579.4:c.1001G>A (CCR5) | NP_000570.1:p.Arg334Gln | |
| NM_001100168.2:c.1001G>A (CCR5) | NP_001093638.1:p.Arg334Gln | |
| NM_001394783.1:c.1001G>A (CCR5) MANE Select | NP_001381712.1:p.Arg334Gln |