Linked Data
ClinVar Variation Id:
1702189
ClinVar RCV Id:
RCV002277976
dbSNP Id:
rs1288784071
MyVariant Identifiers:
chr7:g.94052418G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423106G>A , CM000669.2:g.94423106G>A | GRCh38 |
| NC_000007.13:g.94052418G>A , CM000669.1:g.94052418G>A | GRCh37 |
| NC_000007.12:g.93890354G>A | NCBI36 |
| NG_007405.1:g.33546G>A , LRG_2:g.33546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2553G>A MANE Select | ENSP00000297268.6:p.Glu851= | |
| ENST00000297268.10:c.2553G>A | ENSP00000297268.6:p.Glu851= | |
| ENST00000481570.5:n.636G>A | ||
| ENST00000497316.5:n.950G>A | ||
| ENST00000620463.1:c.2547G>A | ENSP00000477719.1:p.Glu849= | |
| NM_000089.3:c.2553G>A , LRG_2t1:c.2553G>A | NP_000080.2:p.Glu851= | |
| NM_000089.4:c.2553G>A MANE Select | NP_000080.2:p.Glu851= |