Linked Data
ClinVar Variation Id:
258625
dbSNP Id:
rs2277158
ExAC:
9:129453229 A / G
gnomAD v2:
9-129453229-A-G
gnomAD v3:
9-126690950-A-G
gnomAD v4:
9-126690950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126690950A>G , CM000671.2:g.126690950A>G | GRCh38 |
| NC_000009.11:g.129453229A>G , CM000671.1:g.129453229A>G | GRCh37 |
| NC_000009.10:g.128493050A>G | NCBI36 |
| NG_017039.1:g.81508A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.441A>G | ENSP00000347684.5:p.Glu147= | |
| ENST00000373474.9:c.441A>G MANE Select | ENSP00000362573.3:p.Glu147= | |
| ENST00000526117.6:c.441A>G | ENSP00000436930.1:p.Glu147= | |
| ENST00000355497.9:c.441A>G | ENSP00000347684.5:p.Glu147= | |
| ENST00000373474.8:c.441A>G | ENSP00000362573.3:p.Glu147= | |
| ENST00000526117.5:c.441A>G | ENSP00000436930.1:p.Glu147= | |
| ENST00000561065.1:c.372A>G | ENSP00000453580.1:p.Glu124= | |
| NM_001174146.1:c.441A>G | NP_001167617.1:p.Glu147= | |
| NM_001174147.1:c.441A>G | NP_001167618.1:p.Glu147= | |
| NM_002316.3:c.441A>G | NP_002307.2:p.Glu147= | |
| NM_001174146.2:c.441A>G | NP_001167617.1:p.Glu147= | |
| NM_001174147.2:c.441A>G MANE Select | NP_001167618.1:p.Glu147= | |
| NM_002316.4:c.441A>G | NP_002307.2:p.Glu147= |