Linked Data
ClinVar Variation Id:
1200171
ClinVar RCV Id:
RCV001565102
dbSNP Id:
rs773643850
ExAC:
13:28498449 C / A
gnomAD v2:
13-28498449-C-A
gnomAD v3:
13-27924312-C-A
gnomAD v4:
13-27924312-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924312C>A , CM000675.2:g.27924312C>A | GRCh38 |
| NC_000013.10:g.28498449C>A , CM000675.1:g.28498449C>A | GRCh37 |
| NC_000013.9:g.27396449C>A | NCBI36 |
| NG_008183.1:g.9282C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.463C>A MANE Select | ENSP00000370421.4:p.Arg155Ser | |
| ENST00000381033.4:c.463C>A | ENSP00000370421.4:p.Arg155Ser | |
| NM_000209.3:c.463C>A | NP_000200.1:p.Arg155Ser | |
| XR_941579.1:n.2189C>A | ||
| XR_941580.1:n.1105C>A | ||
| XR_941580.2:n.1117C>A | ||
| NM_000209.4:c.463C>A MANE Select | NP_000200.1:p.Arg155Ser |