Linked Data
ClinVar Variation Id:
35472
ClinVar RCV Id:
RCV000055937
dbSNP Id:
rs281864934
gnomAD v4:
3-87245898-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87245898C>A , CM000665.2:g.87245898C>A | GRCh38 |
| NC_000003.11:g.87295048C>A , CM000665.1:g.87295048C>A | GRCh37 |
| NC_000003.10:g.87377738C>A | NCBI36 |
| NG_007885.1:g.23636C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.311C>A MANE Select | ENSP00000263780.4:p.Thr104Asn | |
| ENST00000472024.3:c.359C>A | ENSP00000480032.2:p.Thr120Asn | |
| ENST00000676705.1:c.359C>A | ENSP00000504098.1:p.Thr120Asn | |
| ENST00000676947.1:n.464C>A | ||
| ENST00000677929.1:n.549C>A | ||
| ENST00000678818.1:n.1063-517C>A | ||
| ENST00000678859.1:n.634C>A | ||
| ENST00000263780.8:c.311C>A | ENSP00000263780.4:p.Thr104Asn | |
| ENST00000471660.5:c.188C>A | ENSP00000419998.1:p.Thr63Asn | |
| ENST00000472024.2:c.359C>A | ENSP00000480032.1:p.Thr120Asn | |
| ENST00000494980.5:c.231+80C>A | ENSP00000418920.1:n.231+80C>A | |
| NM_001244644.1:c.188C>A | NP_001231573.1:p.Thr63Asn | |
| NM_014043.3:c.311C>A | NP_054762.2:p.Thr104Asn | |
| XM_011533576.1:c.359C>A | XP_011531878.1:p.Thr120Asn | |
| XM_011533576.2:c.359C>A | XP_011531878.1:p.Thr120Asn | |
| NM_014043.4:c.311C>A MANE Select | NP_054762.2:p.Thr104Asn | |
| NM_001244644.2:c.188C>A | NP_001231573.1:p.Thr63Asn |