Linked Data
ClinVar Variation Id:
181127
dbSNP Id:
rs375675796
gnomAD v3:
11-47337564-C-A
gnomAD v4:
11-47337564-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337564C>A , CM000673.2:g.47337564C>A | GRCh38 |
| NC_000011.9:g.47359115C>A , CM000673.1:g.47359115C>A | GRCh37 |
| NC_000011.8:g.47315691C>A | NCBI36 |
| NG_007667.1:g.20139G>T , LRG_386:g.20139G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2429G>T MANE Select | ENSP00000442795.1:p.Arg810Leu | |
| ENST00000256993.8:c.2429G>T | ENSP00000256993.5:p.Arg810Leu | |
| ENST00000399249.6:c.2429G>T | ENSP00000382193.2:p.Arg810Leu | |
| ENST00000544791.1:c.2414-53G>T | ENSP00000444259.1:n.2414-53G>T | |
| ENST00000545968.5:c.2429G>T | ENSP00000442795.1:p.Arg810Leu | |
| NM_000256.3:c.2429G>T , LRG_386t1:c.2429G>T MANE Select | NP_000247.2:p.Arg810Leu | |
| XM_011520117.1:c.2411G>T | XP_011518419.1:p.Arg804Leu | |
| XM_011520118.1:c.2348G>T | XP_011518420.1:p.Arg783Leu |