Linked Data
ClinVar Variation Id:
1210544
dbSNP Id:
rs763615051
ExAC:
3:87289908 C / T
gnomAD v2:
3-87289908-C-T
gnomAD v3:
3-87240758-C-T
gnomAD v4:
3-87240758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87240758C>T , CM000665.2:g.87240758C>T | GRCh38 |
| NC_000003.11:g.87289908C>T , CM000665.1:g.87289908C>T | GRCh37 |
| NC_000003.10:g.87372598C>T | NCBI36 |
| NG_007885.1:g.18496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.94C>T MANE Select | ENSP00000263780.4:p.Arg32Ter | |
| ENST00000472024.3:c.142C>T | ENSP00000480032.2:p.Arg48Ter | |
| ENST00000676705.1:c.142C>T | ENSP00000504098.1:p.Arg48Ter | |
| ENST00000676947.1:n.247C>T | ||
| ENST00000677929.1:n.332C>T | ||
| ENST00000678818.1:n.1062+305C>T | ||
| ENST00000678859.1:n.417C>T | ||
| ENST00000263780.8:c.94C>T | ENSP00000263780.4:p.Arg32Ter | |
| ENST00000471660.5:c.4-4956C>T | ENSP00000419998.1:n.4-4956C>T | |
| ENST00000472024.2:c.142C>T | ENSP00000480032.1:p.Arg48Ter | |
| ENST00000494980.5:c.94C>T | ENSP00000418920.1:p.Arg32Ter | |
| NM_001244644.1:c.4-4956C>T | NP_001231573.1:n.4-4956C>T | |
| NM_014043.3:c.94C>T | NP_054762.2:p.Arg32Ter | |
| XM_011533576.1:c.142C>T | XP_011531878.1:p.Arg48Ter | |
| XM_011533576.2:c.142C>T | XP_011531878.1:p.Arg48Ter | |
| NM_014043.4:c.94C>T MANE Select | NP_054762.2:p.Arg32Ter | |
| NM_001244644.2:c.4-4956C>T | NP_001231573.1:n.4-4956C>T |