Linked Data
dbSNP Id:
rs1056892
ExAC:
21:37518706 G / A
gnomAD v2:
21-37518706-G-A
gnomAD v3:
21-36146408-G-A
gnomAD v4:
21-36146408-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36146408G>A , CM000683.2:g.36146408G>A | GRCh38 |
| NC_000021.8:g.37518706G>A , CM000683.1:g.37518706G>A | GRCh37 |
| NC_000021.7:g.36440576G>A | NCBI36 |
| NG_052818.1:g.16508G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290354.6:c.730G>A (CBR3) MANE Select | ENSP00000290354.5:p.Val244Met | |
| ENST00000290354.5:c.730G>A (CBR3) | ENSP00000290354.5:p.Val244Met | |
| NM_001236.3:c.730G>A (CBR3) | NP_001227.1:p.Val244Met | |
| NR_038892.1:n.93-53C>T (CBR3-AS1) | ||
| NR_038893.1:n.93-53C>T (CBR3-AS1) | ||
| NR_038894.1:n.93-53C>T (CBR3-AS1) | ||
| NM_001236.4:c.730G>A (CBR3) MANE Select | NP_001227.1:p.Val244Met |