Linked Data
ClinVar Variation Id:
161728
ClinVar RCV Id:
RCV000149264
dbSNP Id:
rs193920971
gnomAD v4:
20-63742886-C-A
COSMIC:
COSM1178754
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63742886C>A , CM000682.2:g.63742886C>A | GRCh38 |
| NC_000020.10:g.62374239C>A , CM000682.1:g.62374239C>A | GRCh37 |
| NC_000020.9:g.61844683C>A | NCBI36 |
| NG_046992.1:g.8029C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266077.5:c.1060C>A MANE Select | ENSP00000266077.2:p.Arg354Ser | |
| ENST00000266077.4:c.1060C>A | ENSP00000266077.2:p.Arg354Ser | |
| ENST00000473157.1:n.372C>A | ||
| ENST00000493772.5:n.709C>A | ||
| ENST00000496425.1:n.271C>A | ||
| NM_020062.3:c.1060C>A | NP_064446.2:p.Arg354Ser | |
| NM_020062.4:c.1060C>A MANE Select | NP_064446.2:p.Arg354Ser |