Linked Data
ClinVar Variation Id:
14640
ClinVar RCV Id:
RCV000056597
dbSNP Id:
rs58058996
gnomAD v4:
12-52519815-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519815A>C , CM000674.2:g.52519815A>C | GRCh38 |
| NC_000012.11:g.52913599A>C , CM000674.1:g.52913599A>C | GRCh37 |
| NC_000012.10:g.51199866A>C | NCBI36 |
| NG_008297.1:g.5645T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.482T>G MANE Select | ENSP00000252242.4:p.Ile161Ser | |
| ENST00000252242.8:c.482T>G | ENSP00000252242.4:p.Ile161Ser | |
| ENST00000549420.1:c.152T>G | ENSP00000447209.1:p.Ile51Ser | |
| ENST00000551275.1:c.377T>G | ENSP00000448041.1:p.Ile126Ser | |
| ENST00000552629.5:n.580T>G | ||
| NM_000424.3:c.482T>G | NP_000415.2:p.Ile161Ser | |
| NM_000424.4:c.482T>G MANE Select | NP_000415.2:p.Ile161Ser |