Linked Data
ClinVar Variation Id:
182268
dbSNP Id:
rs730881576
gnomAD v3:
13-32398266-G-T
gnomAD v4:
13-32398266-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398266G>T , CM000675.2:g.32398266G>T | GRCh38 |
| NC_000013.10:g.32972403G>T , CM000675.1:g.32972403G>T | GRCh37 |
| NC_000013.9:g.31870403G>T | NCBI36 |
| NG_012772.3:g.87787G>T , LRG_293:g.87787G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*276G>T | ENSP00000434898.2:n.*276G>T | |
| ENST00000528762.2:c.*1120G>T | ENSP00000433168.2:n.*1120G>T | |
| ENST00000530893.7:c.9384G>T | ENSP00000499438.2:p.Lys3128Asn | |
| ENST00000665585.2:c.*1315G>T | ENSP00000499570.2:n.*1315G>T | |
| ENST00000700202.2:c.9702G>T | ENSP00000514856.2:p.Lys3234Asn | |
| ENST00000700202.1:c.2169G>T | ENSP00000514856.1:p.Lys723Asn | |
| ENST00000700203.1:n.1880G>T | ||
| ENST00000380152.8:c.9753G>T MANE Select | ENSP00000369497.3:p.Lys3251Asn | |
| ENST00000544455.6:c.9753G>T | ENSP00000439902.1:p.Lys3251Asn | |
| ENST00000614259.2:c.9761G>T | ENSP00000506251.1:n.9761G>T | |
| ENST00000680887.1:c.9753G>T | ENSP00000505508.1:p.Lys3251Asn | |
| ENST00000380152.7:c.9753G>T | ENSP00000369497.3:p.Lys3251Asn | |
| ENST00000470094.1:c.836G>T | ||
| ENST00000533776.1:n.341G>T | ||
| ENST00000544455.5:c.9753G>T | ENSP00000439902.1:p.Lys3251Asn | |
| NM_000059.3:c.9753G>T , LRG_293t1:c.9753G>T | NP_000050.2:p.Lys3251Asn | |
| XM_011535203.1:c.9753G>T | XP_011533505.1:p.Lys3251Asn | |
| XM_011535204.1:c.9657G>T | XP_011533506.1:p.Lys3219Asn | |
| NM_000059.4:c.9753G>T MANE Select | NP_000050.3:p.Lys3251Asn |