Linked Data
ClinVar Variation Id:
2659659
ClinVar RCV Id:
RCV003430346
dbSNP Id:
rs140834695
ExAC:
9:135546255 G / A
gnomAD v2:
9-135546255-G-A
gnomAD v3:
9-132670868-G-A
gnomAD v4:
9-132670868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132670868G>A , CM000671.2:g.132670868G>A | GRCh38 |
| NC_000009.11:g.135546255G>A , CM000671.1:g.135546255G>A | GRCh37 |
| NC_000009.10:g.134536076G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372146.5:c.270G>A MANE Select | ENSP00000361219.4:p.Glu90= | |
| ENST00000372146.4:c.270G>A | ENSP00000361219.4:p.Glu90= | |
| ENST00000483873.6:c.270G>A | ENSP00000431378.1:p.Glu90= | |
| NM_012204.2:c.270G>A | NP_036336.2:p.Glu90= | |
| XR_929875.1:n.834G>A | ||
| NM_012204.3:c.270G>A | NP_036336.2:p.Glu90= | |
| NR_133925.1:n.834G>A | ||
| XM_017015318.1:c.270G>A | XP_016870807.1:p.Glu90= | |
| NM_012204.4:c.270G>A MANE Select | NP_036336.2:p.Glu90= |