Linked Data
ClinVar Variation Id:
462523
dbSNP Id:
rs759851035
ExAC:
13:32968903 G / A
gnomAD v2:
13-32968903-G-A
gnomAD v4:
13-32394766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394766G>A , CM000675.2:g.32394766G>A | GRCh38 |
| NC_000013.10:g.32968903G>A , CM000675.1:g.32968903G>A | GRCh37 |
| NC_000013.9:g.31866903G>A | NCBI36 |
| NG_012772.3:g.84287G>A , LRG_293:g.84287G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9334G>A | ENSP00000434898.2:p.Asp3112Asn | |
| ENST00000528762.2:c.*701G>A | ENSP00000433168.2:n.*701G>A | |
| ENST00000530893.7:c.8965G>A | ENSP00000499438.2:p.Asp2989Asn | |
| ENST00000665585.2:c.*896G>A | ENSP00000499570.2:n.*896G>A | |
| ENST00000666593.2:c.*179G>A | ENSP00000499256.2:n.*179G>A | |
| ENST00000700202.2:c.9283G>A | ENSP00000514856.2:p.Asp3095Asn | |
| ENST00000700202.1:c.1750G>A | ENSP00000514856.1:p.Asp584Asn | |
| ENST00000700203.1:n.1461G>A | ||
| ENST00000380152.8:c.9334G>A MANE Select | ENSP00000369497.3:p.Asp3112Asn | |
| ENST00000544455.6:c.9334G>A | ENSP00000439902.1:p.Asp3112Asn | |
| ENST00000614259.2:c.9342G>A | ENSP00000506251.1:n.9342G>A | |
| ENST00000665585.1:c.2212G>A | ||
| ENST00000666593.1:c.356G>A | ENSP00000499256.1:n.356G>A | |
| ENST00000680887.1:c.9334G>A | ENSP00000505508.1:p.Asp3112Asn | |
| ENST00000380152.7:c.9334G>A | ENSP00000369497.3:p.Asp3112Asn | |
| ENST00000470094.1:c.291G>A | ||
| ENST00000544455.5:c.9334G>A | ENSP00000439902.1:p.Asp3112Asn | |
| NM_000059.3:c.9334G>A , LRG_293t1:c.9334G>A | NP_000050.2:p.Asp3112Asn | |
| XM_011535203.1:c.9334G>A | XP_011533505.1:p.Asp3112Asn | |
| XM_011535204.1:c.9238G>A | XP_011533506.1:p.Asp3080Asn | |
| NM_000059.4:c.9334G>A MANE Select | NP_000050.3:p.Asp3112Asn |