Linked Data
ClinVar Variation Id:
346806
dbSNP Id:
rs192188850
ExAC:
3:87294955 C / T
gnomAD v2:
3-87294955-C-T
gnomAD v3:
3-87245805-C-T
gnomAD v4:
3-87245805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87245805C>T , CM000665.2:g.87245805C>T | GRCh38 |
| NC_000003.11:g.87294955C>T , CM000665.1:g.87294955C>T | GRCh37 |
| NC_000003.10:g.87377645C>T | NCBI36 |
| NG_007885.1:g.23543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.218C>T MANE Select | ENSP00000263780.4:p.Thr73Met | |
| ENST00000472024.3:c.266C>T | ENSP00000480032.2:p.Thr89Met | |
| ENST00000676705.1:c.266C>T | ENSP00000504098.1:p.Thr89Met | |
| ENST00000676947.1:n.371C>T | ||
| ENST00000677929.1:n.456C>T | ||
| ENST00000678818.1:n.1063-610C>T | ||
| ENST00000678859.1:n.541C>T | ||
| ENST00000263780.8:c.218C>T | ENSP00000263780.4:p.Thr73Met | |
| ENST00000471660.5:c.95C>T | ENSP00000419998.1:p.Thr32Met | |
| ENST00000472024.2:c.266C>T | ENSP00000480032.1:p.Thr89Met | |
| ENST00000494980.5:c.218C>T | ENSP00000418920.1:p.Thr73Met | |
| NM_001244644.1:c.95C>T | NP_001231573.1:p.Thr32Met | |
| NM_014043.3:c.218C>T | NP_054762.2:p.Thr73Met | |
| XM_011533576.1:c.266C>T | XP_011531878.1:p.Thr89Met | |
| XM_011533576.2:c.266C>T | XP_011531878.1:p.Thr89Met | |
| NM_014043.4:c.218C>T MANE Select | NP_054762.2:p.Thr73Met | |
| NM_001244644.2:c.95C>T | NP_001231573.1:p.Thr32Met |