Linked Data
ClinVar Variation Id:
181065
ClinVar RCV Id:
RCV000158339
dbSNP Id:
rs730880638
gnomAD v3:
11-47343493-T-G
gnomAD v4:
11-47343493-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343493T>G , CM000673.2:g.47343493T>G | GRCh38 |
| NC_000011.9:g.47365044T>G , CM000673.1:g.47365044T>G | GRCh37 |
| NC_000011.8:g.47321620T>G | NCBI36 |
| NG_007667.1:g.14210A>C , LRG_386:g.14210A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1222A>C MANE Select | ENSP00000442795.1:p.Ser408Arg | |
| ENST00000256993.8:c.1222A>C | ENSP00000256993.5:p.Ser408Arg | |
| ENST00000399249.6:c.1222A>C | ENSP00000382193.2:p.Ser408Arg | |
| ENST00000544791.1:c.1222A>C | ENSP00000444259.1:p.Ser408Arg | |
| ENST00000545968.5:c.1222A>C | ENSP00000442795.1:p.Ser408Arg | |
| NM_000256.3:c.1222A>C , LRG_386t1:c.1222A>C MANE Select | NP_000247.2:p.Ser408Arg | |
| XM_011520117.1:c.1204A>C | XP_011518419.1:p.Ser402Arg | |
| XM_011520118.1:c.1222A>C | XP_011518420.1:p.Ser408Arg |