Linked Data
ClinVar Variation Id:
555842
dbSNP Id:
rs138545216
ExAC:
1:179526229 C / T
gnomAD v2:
1-179526229-C-T
gnomAD v3:
1-179557094-C-T
gnomAD v4:
1-179557094-C-T
COSMIC:
COSM2095451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179557094C>T , CM000663.2:g.179557094C>T | GRCh38 |
| NC_000001.10:g.179526229C>T , CM000663.1:g.179526229C>T | GRCh37 |
| NC_000001.9:g.177792852C>T | NCBI36 |
| NG_007535.1:g.23856G>A , LRG_887:g.23856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.671G>A MANE Select | ENSP00000356587.4:p.Arg224His | |
| ENST00000367615.8:c.671G>A | ENSP00000356587.4:p.Arg224His | |
| ENST00000367616.4:c.535-2563G>A | ENSP00000356588.4:n.535-2563G>A | |
| NM_001297575.1:c.535-2563G>A | NP_001284504.1:n.535-2563G>A | |
| NM_014625.3:c.671G>A , LRG_887t1:c.671G>A | NP_055440.1:p.Arg224His | |
| XM_005245483.2:c.494G>A | XP_005245540.1:p.Arg165His | |
| XM_006711529.2:c.671G>A | XP_006711592.1:p.Arg224His | |
| XM_005245483.3:c.494G>A | XP_005245540.1:p.Arg165His | |
| XM_017002298.1:c.461+2585G>A | XP_016857787.1:n.461+2585G>A | |
| XM_017002299.1:c.534+2585G>A | XP_016857788.1:n.534+2585G>A | |
| NM_001297575.2:c.535-2563G>A | NP_001284504.1:n.535-2563G>A | |
| NM_014625.4:c.671G>A MANE Select | NP_055440.1:p.Arg224His |