Linked Data
ClinVar Variation Id:
1310088
ClinVar RCV Id:
RCV001757156
dbSNP Id:
rs1473258516
gnomAD v4:
12-56929415-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56929415G>C , CM000674.2:g.56929415G>C | GRCh38 |
| NC_000012.11:g.57323199G>C , CM000674.1:g.57323199G>C | GRCh37 |
| NC_000012.10:g.55609466G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293502.2:c.699C>G MANE Select | ENSP00000293502.1:p.Ser233Arg | |
| ENST00000293502.1:c.699C>G | ENSP00000293502.1:p.Ser233Arg | |
| NM_148897.2:c.699C>G | NP_683695.1:p.Ser233Arg | |
| NM_148897.3:c.699C>G MANE Select | NP_683695.1:p.Ser233Arg |