Linked Data
ClinVar Variation Id:
111246
dbSNP Id:
rs121913208
ExAC:
21:34799244 A / C
gnomAD v2:
21-34799244-A-C
gnomAD v3:
21-33426937-A-C
gnomAD v4:
21-33426937-A-C
COSMIC:
COSM220996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33426937A>C , CM000683.2:g.33426937A>C | GRCh38 |
| NC_000021.8:g.34799244A>C , CM000683.1:g.34799244A>C | GRCh37 |
| NC_000021.7:g.33721114A>C | NCBI36 |
| NG_007570.2:g.46946A>C , LRG_67:g.46946A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.457A>C | ENSP00000512835.1:p.Ile153Leu | |
| ENST00000290219.11:c.466A>C MANE Select | ENSP00000290219.5:p.Ile156Leu | |
| ENST00000290219.10:c.466A>C | ENSP00000290219.5:p.Ile156Leu | |
| ENST00000381995.5:c.523A>C | ENSP00000371425.1:p.Ile175Leu | |
| ENST00000405436.5:c.229A>C | ENSP00000385044.1:p.Ile77Leu | |
| ENST00000439213.5:c.*441A>C | ENSP00000407541.1:n.*441A>C | |
| ENST00000545369.2:c.*219A>C | ENSP00000442735.2:n.*219A>C | |
| NM_005534.3:c.466A>C , LRG_67t1:c.466A>C | NP_005525.2:p.Ile156Leu | |
| XM_005260969.2:c.523A>C | XP_005261026.1:p.Ile175Leu | |
| XM_011529553.1:c.541A>C | XP_011527855.1:p.Ile181Leu | |
| XM_011529554.1:c.472A>C | XP_011527856.1:p.Ile158Leu | |
| NM_001329128.1:c.523A>C | NP_001316057.1:p.Ile175Leu | |
| XM_011529554.2:c.472A>C | XP_011527856.1:p.Ile158Leu | |
| NM_001329128.2:c.523A>C | NP_001316057.1:p.Ile175Leu | |
| NM_005534.4:c.466A>C MANE Select | NP_005525.2:p.Ile156Leu |