Linked Data
ClinVar Variation Id:
402517
dbSNP Id:
rs2532502
ExAC:
12:6560473 A / G
gnomAD v2:
12-6560473-A-G
gnomAD v3:
12-6451307-A-G
gnomAD v4:
12-6451307-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6451307A>G , CM000674.2:g.6451307A>G | GRCh38 |
| NC_000012.11:g.6560473A>G , CM000674.1:g.6560473A>G | GRCh37 |
| NC_000012.10:g.6430734A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266557.4:c.698A>G (CD27) MANE Select | ENSP00000266557.3:p.His233Arg | |
| ENST00000266557.3:c.698A>G (CD27) | ENSP00000266557.3:p.His233Arg | |
| ENST00000541233.1:n.634A>G (CD27) | ||
| NR_015382.2:n.211T>C (CD27-AS1) | ||
| XM_011521042.1:c.560A>G (CD27) | XP_011519344.1:p.His187Arg | |
| XM_011521042.3:c.560A>G (CD27) | XP_011519344.1:p.His187Arg | |
| XM_017020232.1:c.951A>G (CD27) | XP_016875721.1:p.Ser317= | |
| XM_017020233.2:c.813A>G (CD27) | XP_016875722.1:p.Ser271= | |
| XM_017020234.1:c.810A>G (CD27) | XP_016875723.1:p.Ser270= | |
| NM_001242.5:c.698A>G (CD27) MANE Select | NP_001233.2:p.His233Arg |