Linked Data
ClinVar Variation Id:
280026
dbSNP Id:
rs199564797
ExAC:
1:26135641 G / A
gnomAD v2:
1-26135641-G-A
gnomAD v3:
1-25809150-G-A
gnomAD v4:
1-25809150-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25809150G>A , CM000663.2:g.25809150G>A | GRCh38 |
| NC_000001.10:g.26135641G>A , CM000663.1:g.26135641G>A | GRCh37 |
| NC_000001.9:g.26008228G>A | NCBI36 |
| NG_009930.1:g.13975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.701G>A | ENSP00000346109.5:p.Arg234Gln | |
| ENST00000494537.2:c.770G>A | ENSP00000508308.1:p.Arg257Gln | |
| ENST00000361547.7:c.872G>A MANE Select | ENSP00000355141.2:p.Arg291Gln | |
| ENST00000354177.8:c.770G>A | ENSP00000346109.4:p.Arg257Gln | |
| ENST00000361547.6:c.872G>A | ENSP00000355141.2:p.Arg291Gln | |
| ENST00000374315.1:c.770G>A | ENSP00000363434.1:p.Arg257Gln | |
| NM_020451.2:c.872G>A | NP_065184.2:p.Arg291Gln | |
| NM_206926.1:c.770G>A | NP_996809.1:p.Arg257Gln | |
| NM_020451.3:c.872G>A MANE Select | NP_065184.2:p.Arg291Gln | |
| NM_206926.2:c.770G>A | NP_996809.1:p.Arg257Gln |