Linked Data
ClinVar Variation Id:
52877
dbSNP Id:
rs80359235
gnomAD v4:
13-32397033-A-G
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32397033A>G , CM000675.2:g.32397033A>G | GRCh38 |
| NC_000013.10:g.32971170A>G , CM000675.1:g.32971170A>G | GRCh37 |
| NC_000013.9:g.31869170A>G | NCBI36 |
| NG_012772.3:g.86554A>G , LRG_293:g.86554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*160A>G | ENSP00000434898.2:n.*160A>G | |
| ENST00000528762.2:c.*1004A>G | ENSP00000433168.2:n.*1004A>G | |
| ENST00000530893.7:c.9268A>G | ENSP00000499438.2:p.Asn3090Asp | |
| ENST00000665585.2:c.*1199A>G | ENSP00000499570.2:n.*1199A>G | |
| ENST00000700202.2:c.9586A>G | ENSP00000514856.2:p.Asn3196Asp | |
| ENST00000700202.1:c.2053A>G | ENSP00000514856.1:p.Asn685Asp | |
| ENST00000700203.1:n.1764A>G | ||
| ENST00000380152.8:c.9637A>G MANE Select | ENSP00000369497.3:p.Asn3213Asp | |
| ENST00000544455.6:c.9637A>G | ENSP00000439902.1:p.Asn3213Asp | |
| ENST00000614259.2:c.9645A>G | ENSP00000506251.1:n.9645A>G | |
| ENST00000665585.1:c.2515A>G | ||
| ENST00000680887.1:c.9637A>G | ENSP00000505508.1:p.Asn3213Asp | |
| ENST00000380152.7:c.9637A>G | ENSP00000369497.3:p.Asn3213Asp | |
| ENST00000470094.1:c.720A>G | ||
| ENST00000533776.1:n.225A>G | ||
| ENST00000544455.5:c.9637A>G | ENSP00000439902.1:p.Asn3213Asp | |
| NM_000059.3:c.9637A>G , LRG_293t1:c.9637A>G | NP_000050.2:p.Asn3213Asp | |
| XM_011535203.1:c.9637A>G | XP_011533505.1:p.Asn3213Asp | |
| XM_011535204.1:c.9541A>G | XP_011533506.1:p.Asn3181Asp | |
| NM_000059.4:c.9637A>G MANE Select | NP_000050.3:p.Asn3213Asp |