Linked Data
ClinVar Variation Id:
1627830
ClinVar RCV Id:
RCV002133009
dbSNP Id:
rs775404728
gnomAD v4:
11-47337535-G-T
MyVariant Identifiers:
chr11:g.47359086G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337535G>T , CM000673.2:g.47337535G>T | GRCh38 |
| NC_000011.9:g.47359086G>T , CM000673.1:g.47359086G>T | GRCh37 |
| NC_000011.8:g.47315662G>T | NCBI36 |
| NG_007667.1:g.20168C>A , LRG_386:g.20168C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2458C>A MANE Select | ENSP00000442795.1:p.Arg820= | |
| ENST00000256993.8:c.2458C>A | ENSP00000256993.5:p.Arg820= | |
| ENST00000399249.6:c.2458C>A | ENSP00000382193.2:p.Arg820= | |
| ENST00000544791.1:c.2414-24C>A | ENSP00000444259.1:n.2414-24C>A | |
| ENST00000545968.5:c.2458C>A | ENSP00000442795.1:p.Arg820= | |
| NM_000256.3:c.2458C>A , LRG_386t1:c.2458C>A MANE Select | NP_000247.2:p.Arg820= | |
| XM_011520117.1:c.2440C>A | XP_011518419.1:p.Arg814= | |
| XM_011520118.1:c.2377C>A | XP_011518420.1:p.Arg793= |