Linked Data
ClinVar Variation Id:
2525864
ClinVar RCV Id:
RCV004304588
dbSNP Id:
rs764324495
ExAC:
21:37507678 A / G
gnomAD v2:
21-37507678-A-G
gnomAD v3:
21-36135380-A-G
gnomAD v4:
21-36135380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36135380A>G , CM000683.2:g.36135380A>G | GRCh38 |
| NC_000021.8:g.37507678A>G , CM000683.1:g.37507678A>G | GRCh37 |
| NC_000021.7:g.36429548A>G | NCBI36 |
| NG_052818.1:g.5480A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290354.6:c.188A>G (CBR3) MANE Select | ENSP00000290354.5:p.Asp63Gly | |
| ENST00000290354.5:c.188A>G (CBR3) | ENSP00000290354.5:p.Asp63Gly | |
| NM_001236.3:c.188A>G (CBR3) | NP_001227.1:p.Asp63Gly | |
| NR_038892.1:n.193-1619T>C (CBR3-AS1) | ||
| NR_038893.1:n.193-2306T>C (CBR3-AS1) | ||
| XM_011529772.1:c.188A>G (CBR3) | XP_011528074.1:p.Asp63Gly | |
| XM_011529772.2:c.188A>G (CBR3) | XP_011528074.1:p.Asp63Gly | |
| NM_001236.4:c.188A>G (CBR3) MANE Select | NP_001227.1:p.Asp63Gly |