Linked Data
ClinVar Variation Id:
52784
dbSNP Id:
rs80359191
ExAC:
13:32954275 A / T
gnomAD v2:
13-32954275-A-T
gnomAD v3:
13-32380138-A-T
gnomAD v4:
13-32380138-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380138A>T , CM000675.2:g.32380138A>T | GRCh38 |
| NC_000013.10:g.32954275A>T , CM000675.1:g.32954275A>T | GRCh37 |
| NC_000013.9:g.31852275A>T | NCBI36 |
| NG_012772.3:g.69659A>T , LRG_293:g.69659A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9249A>T | ENSP00000434898.2:p.Lys3083Asn | |
| ENST00000528762.2:c.*616A>T | ENSP00000433168.2:n.*616A>T | |
| ENST00000530893.7:c.8880A>T | ENSP00000499438.2:p.Lys2960Asn | |
| ENST00000665585.2:c.*811A>T | ENSP00000499570.2:n.*811A>T | |
| ENST00000666593.2:c.9249A>T | ENSP00000499256.2:p.Lys3083Asn | |
| ENST00000700202.2:c.9198A>T | ENSP00000514856.2:p.Lys3066Asn | |
| ENST00000700202.1:c.1665A>T | ENSP00000514856.1:p.Lys555Asn | |
| ENST00000700203.1:n.1376A>T | ||
| ENST00000380152.8:c.9249A>T MANE Select | ENSP00000369497.3:p.Lys3083Asn | |
| ENST00000544455.6:c.9249A>T | ENSP00000439902.1:p.Lys3083Asn | |
| ENST00000614259.2:c.9257A>T | ENSP00000506251.1:n.9257A>T | |
| ENST00000665585.1:c.2127A>T | ||
| ENST00000666593.1:c.132A>T | ENSP00000499256.1:p.Lys44Asn | |
| ENST00000680887.1:c.9249A>T | ENSP00000505508.1:p.Lys3083Asn | |
| ENST00000380152.7:c.9249A>T | ENSP00000369497.3:p.Lys3083Asn | |
| ENST00000470094.1:c.206A>T | ||
| ENST00000544455.5:c.9249A>T | ENSP00000439902.1:p.Lys3083Asn | |
| NM_000059.3:c.9249A>T , LRG_293t1:c.9249A>T | NP_000050.2:p.Lys3083Asn | |
| XM_011535203.1:c.9249A>T | XP_011533505.1:p.Lys3083Asn | |
| XM_011535204.1:c.9153A>T | XP_011533506.1:p.Lys3051Asn | |
| NM_000059.4:c.9249A>T MANE Select | NP_000050.3:p.Lys3083Asn |