Linked Data
ClinVar Variation Id:
1612268
ClinVar RCV Id:
RCV002157967
dbSNP Id:
rs1195281334
MyVariant Identifiers:
chr12:g.121177179G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739376G>A , CM000674.2:g.120739376G>A | GRCh38 |
| NC_000012.11:g.121177179G>A , CM000674.1:g.121177179G>A | GRCh37 |
| NC_000012.10:g.119661562G>A | NCBI36 |
| NG_007991.1:g.18609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1167G>A MANE Select | ENSP00000242592.4:p.Glu389= | |
| ENST00000242592.8:c.1167G>A | ENSP00000242592.4:p.Glu389= | |
| ENST00000411593.2:c.1155G>A | ENSP00000401045.2:p.Glu385= | |
| NM_000017.3:c.1167G>A | NP_000008.1:p.Glu389= | |
| NM_001302554.1:c.1155G>A | NP_001289483.1:p.Glu385= | |
| NM_000017.4:c.1167G>A MANE Select | NP_000008.1:p.Glu389= | |
| NM_001302554.2:c.1155G>A | NP_001289483.1:p.Glu385= |