Linked Data
ClinVar Variation Id:
713868
ClinVar RCV Id:
RCV000886079
dbSNP Id:
rs1588503739
gnomAD v4:
9-130489451-G-A
MyVariant Identifiers:
chr9:g.133364838G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489451G>A , CM000671.2:g.130489451G>A | GRCh38 |
| NC_000009.11:g.133364838G>A , CM000671.1:g.133364838G>A | GRCh37 |
| NC_000009.10:g.132354659G>A | NCBI36 |
| NG_011542.1:g.49745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.957G>A MANE Select | ENSP00000253004.6:p.Glu319= | |
| ENST00000352480.9:c.957G>A | ENSP00000253004.6:p.Glu319= | |
| ENST00000372386.6:n.228G>A | ||
| ENST00000372393.7:c.957G>A | ENSP00000361469.2:p.Glu319= | |
| ENST00000372394.5:c.957G>A | ENSP00000361471.1:p.Glu319= | |
| NM_000050.4:c.957G>A | NP_000041.2:p.Glu319= | |
| NM_054012.3:c.957G>A | NP_446464.1:p.Glu319= | |
| XM_005272200.2:c.957G>A | XP_005272257.1:p.Glu319= | |
| XM_011518705.1:c.1071G>A | XP_011517007.1:p.Glu357= | |
| XM_005272200.3:c.957G>A | XP_005272257.1:p.Glu319= | |
| XM_011518705.2:c.1071G>A | XP_011517007.1:p.Glu357= | |
| XM_017014729.1:c.1053G>A | XP_016870218.1:p.Glu351= | |
| NM_054012.4:c.957G>A MANE Select | NP_446464.1:p.Glu319= |