Linked Data
dbSNP Id:
rs758090461
ExAC:
3:46414595 T / A
gnomAD v2:
3-46414595-T-A
gnomAD v4:
3-46373104-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373104T>A , CM000665.2:g.46373104T>A | GRCh38 |
| NC_000003.11:g.46414595T>A , CM000665.1:g.46414595T>A | GRCh37 |
| NC_000003.10:g.46389599T>A | NCBI36 |
| NG_012637.1:g.7963T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.202T>A (CCR5) MANE Select | ENSP00000292303.4:p.Tyr68Asn | |
| ENST00000292303.4:c.202T>A (CCR5) | ENSP00000292303.4:p.Tyr68Asn | |
| ENST00000445772.1:c.202T>A (CCR5) | ENSP00000404881.1:p.Tyr68Asn | |
| NM_000579.3:c.202T>A (CCR5) | NP_000570.1:p.Tyr68Asn | |
| NM_001100168.1:c.202T>A (CCR5) | NP_001093638.1:p.Tyr68Asn | |
| NR_125406.1:n.392-1687A>T (CCR5AS) | ||
| NM_000579.4:c.202T>A (CCR5) | NP_000570.1:p.Tyr68Asn | |
| NM_001100168.2:c.202T>A (CCR5) | NP_001093638.1:p.Tyr68Asn | |
| NM_001394783.1:c.202T>A (CCR5) MANE Select | NP_001381712.1:p.Tyr68Asn |