Linked Data
ClinVar Variation Id:
38251
ClinVar RCV Id:
RCV000031834
RCV000045862
RCV000129724
RCV000148420
RCV000586984
RCV000735631
RCV001080657
RCV001269375
dbSNP Id:
rs80359228
ExAC:
13:32971119 A / G
gnomAD v2:
13-32971119-A-G
gnomAD v3:
13-32396982-A-G
gnomAD v4:
13-32396982-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396982A>G , CM000675.2:g.32396982A>G | GRCh38 |
| NC_000013.10:g.32971119A>G , CM000675.1:g.32971119A>G | GRCh37 |
| NC_000013.9:g.31869119A>G | NCBI36 |
| NG_012772.3:g.86503A>G , LRG_293:g.86503A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*109A>G | ENSP00000434898.2:n.*109A>G | |
| ENST00000528762.2:c.*953A>G | ENSP00000433168.2:n.*953A>G | |
| ENST00000530893.7:c.9217A>G | ENSP00000499438.2:p.Lys3073Glu | |
| ENST00000665585.2:c.*1148A>G | ENSP00000499570.2:n.*1148A>G | |
| ENST00000700202.2:c.9535A>G | ENSP00000514856.2:p.Lys3179Glu | |
| ENST00000700202.1:c.2002A>G | ENSP00000514856.1:p.Lys668Glu | |
| ENST00000700203.1:n.1713A>G | ||
| ENST00000380152.8:c.9586A>G MANE Select | ENSP00000369497.3:p.Lys3196Glu | |
| ENST00000544455.6:c.9586A>G | ENSP00000439902.1:p.Lys3196Glu | |
| ENST00000614259.2:c.9594A>G | ENSP00000506251.1:n.9594A>G | |
| ENST00000665585.1:c.2464A>G | ||
| ENST00000680887.1:c.9586A>G | ENSP00000505508.1:p.Lys3196Glu | |
| ENST00000380152.7:c.9586A>G | ENSP00000369497.3:p.Lys3196Glu | |
| ENST00000470094.1:c.669A>G | ||
| ENST00000533776.1:n.174A>G | ||
| ENST00000544455.5:c.9586A>G | ENSP00000439902.1:p.Lys3196Glu | |
| NM_000059.3:c.9586A>G , LRG_293t1:c.9586A>G | NP_000050.2:p.Lys3196Glu | |
| XM_011535203.1:c.9586A>G | XP_011533505.1:p.Lys3196Glu | |
| XM_011535204.1:c.9490A>G | XP_011533506.1:p.Lys3164Glu | |
| NM_000059.4:c.9586A>G MANE Select | NP_000050.3:p.Lys3196Glu |