Linked Data
ClinVar Variation Id:
2419130
ClinVar RCV Id:
RCV003112374
dbSNP Id:
rs1446145842
gnomAD v3:
3-186570957-G-A
gnomAD v4:
3-186570957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186570957G>A , CM000665.2:g.186570957G>A | GRCh38 |
| NC_000003.11:g.186288746G>A , CM000665.1:g.186288746G>A | GRCh37 |
| NC_000003.10:g.187771440G>A | NCBI36 |
| NG_034024.1:g.5282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265028.8:c.60G>A MANE Select | ENSP00000265028.3:p.Val20= | |
| ENST00000464877.2:n.258G>A | ||
| ENST00000495390.2:n.258G>A | ||
| ENST00000680338.1:c.60G>A | ENSP00000505624.1:p.Val20= | |
| ENST00000265028.7:c.60G>A | ENSP00000265028.3:p.Val20= | |
| ENST00000439351.5:c.60G>A | ENSP00000414398.1:p.Val20= | |
| NM_016306.5:c.60G>A | NP_057390.1:p.Val20= | |
| NM_001378451.1:c.60G>A | NP_001365380.1:p.Val20= | |
| NM_016306.6:c.60G>A MANE Select | NP_057390.1:p.Val20= | |
| NR_165638.1:n.238G>A | ||
| NR_165639.1:n.238G>A | ||
| NR_165640.1:n.238G>A | ||
| NR_165641.1:n.238G>A | ||
| NR_165642.1:n.238G>A | ||
| NR_165643.1:n.238G>A |