Linked Data
ClinVar Variation Id:
1385232
ClinVar RCV Id:
RCV001888717
dbSNP Id:
rs2143114448
MyVariant Identifiers:
chr17:g.40695920G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543902G>A , CM000679.2:g.42543902G>A | GRCh38 |
| NC_000017.10:g.40695920G>A , CM000679.1:g.40695920G>A | GRCh37 |
| NC_000017.9:g.37949446G>A | NCBI36 |
| NG_011552.1:g.12970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1896G>A MANE Select | ENSP00000225927.1:p.Glu632= | |
| ENST00000225927.6:c.1896G>A | ENSP00000225927.1:p.Glu632= | |
| ENST00000591587.1:c.1234G>A | ENSP00000467836.1:n.1234G>A | |
| NM_000263.3:c.1896G>A | NP_000254.2:p.Glu632= | |
| XM_006721920.2:c.1065G>A | XP_006721983.1:p.Glu355= | |
| XM_011524840.1:c.897G>A | XP_011523142.1:p.Glu299= | |
| XM_017024687.1:c.1065G>A | XP_016880176.1:p.Glu355= | |
| XM_024450771.1:c.1953G>A | XP_024306539.1:p.Glu651= | |
| XM_024450772.1:c.897G>A | XP_024306540.1:p.Glu299= | |
| NM_000263.4:c.1896G>A MANE Select | NP_000254.2:p.Glu632= |