Linked Data
ClinVar Variation Id:
299623
dbSNP Id:
rs569569636
ExAC:
10:23481722 G / A
gnomAD v2:
10-23481722-G-A
gnomAD v3:
10-23192793-G-A
gnomAD v4:
10-23192793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.23192793G>A , CM000672.2:g.23192793G>A | GRCh38 |
| NC_000010.10:g.23481722G>A , CM000672.1:g.23481722G>A | GRCh37 |
| NC_000010.9:g.23521728G>A | NCBI36 |
| NG_009798.1:g.5263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376504.4:c.263G>A MANE Select | ENSP00000365687.3:p.Gly88Asp | |
| ENST00000638469.1:c.114+116G>A | ENSP00000491649.1:n.114+116G>A | |
| ENST00000376504.3:c.263G>A | ENSP00000365687.3:p.Gly88Asp | |
| NM_178161.2:c.263G>A | NP_835455.1:p.Gly88Asp | |
| NM_178161.3:c.263G>A MANE Select | NP_835455.1:p.Gly88Asp |