Linked Data
ClinVar Variation Id:
837763
dbSNP Id:
rs774348756
ExAC:
11:47362777 A / C
gnomAD v2:
11-47362777-A-C
gnomAD v4:
11-47341226-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341226A>C , CM000673.2:g.47341226A>C | GRCh38 |
| NC_000011.9:g.47362777A>C , CM000673.1:g.47362777A>C | GRCh37 |
| NC_000011.8:g.47319353A>C | NCBI36 |
| NG_007667.1:g.16477T>G , LRG_386:g.16477T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1809T>G MANE Select | ENSP00000442795.1:p.Ile603Met | |
| ENST00000256993.8:c.1809T>G | ENSP00000256993.5:p.Ile603Met | |
| ENST00000399249.6:c.1809T>G | ENSP00000382193.2:p.Ile603Met | |
| ENST00000544791.1:c.1809T>G | ENSP00000444259.1:p.Ile603Met | |
| ENST00000545968.5:c.1809T>G | ENSP00000442795.1:p.Ile603Met | |
| NM_000256.3:c.1809T>G , LRG_386t1:c.1809T>G MANE Select | NP_000247.2:p.Ile603Met | |
| XM_011520117.1:c.1791T>G | XP_011518419.1:p.Ile597Met | |
| XM_011520118.1:c.1809T>G | XP_011518420.1:p.Ile603Met |