Linked Data
ClinVar Variation Id:
2845832
ClinVar RCV Id:
RCV003687610
dbSNP Id:
rs773768784
ExAC:
13:28498578 C / A
gnomAD v2:
13-28498578-C-A
gnomAD v4:
13-27924441-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924441C>A , CM000675.2:g.27924441C>A | GRCh38 |
| NC_000013.10:g.28498578C>A , CM000675.1:g.28498578C>A | GRCh37 |
| NC_000013.9:g.27396578C>A | NCBI36 |
| NG_008183.1:g.9411C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.592C>A MANE Select | ENSP00000370421.4:p.Arg198Ser | |
| ENST00000381033.4:c.592C>A | ENSP00000370421.4:p.Arg198Ser | |
| NM_000209.3:c.592C>A | NP_000200.1:p.Arg198Ser | |
| NM_000209.4:c.592C>A MANE Select | NP_000200.1:p.Arg198Ser |