Linked Data
dbSNP Id:
rs777351934
ExAC:
3:46415137 G / T
gnomAD v2:
3-46415137-G-T
gnomAD v4:
3-46373646-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46373646G>T , CM000665.2:g.46373646G>T | GRCh38 |
| NC_000003.11:g.46415137G>T , CM000665.1:g.46415137G>T | GRCh37 |
| NC_000003.10:g.46390141G>T | NCBI36 |
| NG_012637.1:g.8505G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292303.5:c.744G>T (CCR5) MANE Select | ENSP00000292303.4:p.Trp248Cys | |
| ENST00000292303.4:c.744G>T (CCR5) | ENSP00000292303.4:p.Trp248Cys | |
| ENST00000445772.1:c.744G>T (CCR5) | ENSP00000404881.1:p.Trp248Cys | |
| NM_000579.3:c.744G>T (CCR5) | NP_000570.1:p.Trp248Cys | |
| NM_001100168.1:c.744G>T (CCR5) | NP_001093638.1:p.Trp248Cys | |
| NR_125406.1:n.392-2229C>A (CCR5AS) | ||
| NM_000579.4:c.744G>T (CCR5) | NP_000570.1:p.Trp248Cys | |
| NM_001100168.2:c.744G>T (CCR5) | NP_001093638.1:p.Trp248Cys | |
| NM_001394783.1:c.744G>T (CCR5) MANE Select | NP_001381712.1:p.Trp248Cys |