Linked Data
dbSNP Id:
rs1291313344
COSMIC:
COSM3972764
MyVariant Identifiers:
chr21:g.37518618G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36146320G>A , CM000683.2:g.36146320G>A | GRCh38 |
| NC_000021.8:g.37518618G>A , CM000683.1:g.37518618G>A | GRCh37 |
| NC_000021.7:g.36440488G>A | NCBI36 |
| NG_052818.1:g.16420G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290354.6:c.642G>A (CBR3) MANE Select | ENSP00000290354.5:p.Glu214= | |
| ENST00000290354.5:c.642G>A (CBR3) | ENSP00000290354.5:p.Glu214= | |
| NM_001236.3:c.642G>A (CBR3) | NP_001227.1:p.Glu214= | |
| NR_038892.1:n.128C>T (CBR3-AS1) | ||
| NR_038893.1:n.128C>T (CBR3-AS1) | ||
| NR_038894.1:n.128C>T (CBR3-AS1) | ||
| NM_001236.4:c.642G>A (CBR3) MANE Select | NP_001227.1:p.Glu214= |