Linked Data
ClinVar Variation Id:
520701
ClinVar RCV Id:
RCV004025263
dbSNP Id:
rs768849266
ExAC:
1:183230395 C / T
gnomAD v2:
1-183230395-C-T
gnomAD v4:
1-183261260-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183261260C>T , CM000663.2:g.183261260C>T | GRCh38 |
| NC_000001.10:g.183230395C>T , CM000663.1:g.183230395C>T | GRCh37 |
| NC_000001.9:g.181497018C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287713.7:c.695G>A MANE Select | ENSP00000287713.6:p.Arg232Gln | |
| ENST00000287713.6:c.695G>A | ENSP00000287713.6:p.Arg232Gln | |
| ENST00000294868.8:c.680G>A | ENSP00000294868.4:p.Arg227Gln | |
| ENST00000464047.1:n.177G>A | ||
| NM_015039.3:c.695G>A | NP_055854.1:p.Arg232Gln | |
| NM_170706.3:c.680G>A | NP_733820.1:p.Arg227Gln | |
| XM_024454277.1:c.491G>A | XP_024310045.1:p.Arg164Gln | |
| NM_015039.4:c.695G>A MANE Select | NP_055854.1:p.Arg232Gln | |
| NM_170706.4:c.680G>A | NP_733820.1:p.Arg227Gln |