Linked Data
ClinVar Variation Id:
51055
dbSNP Id:
rs80358401
ExAC:
13:32972870 A / G
gnomAD v2:
13-32972870-A-G
gnomAD v4:
13-32398733-A-G
PubMed:
PMID:24817641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398733A>G , CM000675.2:g.32398733A>G | GRCh38 |
| NC_000013.10:g.32972870A>G , CM000675.1:g.32972870A>G | GRCh37 |
| NC_000013.9:g.31870870A>G | NCBI36 |
| NG_012772.3:g.88254A>G , LRG_293:g.88254A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*743A>G | ENSP00000434898.2:n.*743A>G | |
| ENST00000528762.2:c.*1587A>G | ENSP00000433168.2:n.*1587A>G | |
| ENST00000530893.7:c.9851A>G | ENSP00000499438.2:p.Asn3284Ser | |
| ENST00000665585.2:c.*1782A>G | ENSP00000499570.2:n.*1782A>G | |
| ENST00000700202.2:c.10169A>G | ENSP00000514856.2:p.Asn3390Ser | |
| ENST00000700202.1:c.2636A>G | ENSP00000514856.1:p.Asn879Ser | |
| ENST00000700203.1:n.2347A>G | ||
| ENST00000380152.8:c.10220A>G MANE Select | ENSP00000369497.3:p.Asn3407Ser | |
| ENST00000544455.6:c.10220A>G | ENSP00000439902.1:p.Asn3407Ser | |
| ENST00000614259.2:c.10228A>G | ENSP00000506251.1:n.10228A>G | |
| ENST00000680887.1:c.10220A>G | ENSP00000505508.1:p.Asn3407Ser | |
| ENST00000380152.7:c.10220A>G | ENSP00000369497.3:p.Asn3407Ser | |
| ENST00000544455.5:c.10220A>G | ENSP00000439902.1:p.Asn3407Ser | |
| NM_000059.3:c.10220A>G , LRG_293t1:c.10220A>G | NP_000050.2:p.Asn3407Ser | |
| XM_011535203.1:c.10220A>G | XP_011533505.1:p.Asn3407Ser | |
| XM_011535204.1:c.10124A>G | XP_011533506.1:p.Asn3375Ser | |
| NM_000059.4:c.10220A>G MANE Select | NP_000050.3:p.Asn3407Ser |