Linked Data
ClinVar Variation Id:
41571
dbSNP Id:
rs139052578
gnomAD v2:
13-32953640-G-A
gnomAD v4:
13-32379503-G-A
COSMIC:
COSM109341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379503G>A , CM000675.2:g.32379503G>A | GRCh38 |
| NC_000013.10:g.32953640G>A , CM000675.1:g.32953640G>A | GRCh37 |
| NC_000013.9:g.31851640G>A | NCBI36 |
| NG_012772.3:g.69024G>A , LRG_293:g.69024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8941G>A | ENSP00000434898.2:p.Glu2981Lys | |
| ENST00000528762.2:c.*308G>A | ENSP00000433168.2:n.*308G>A | |
| ENST00000530893.7:c.8572G>A | ENSP00000499438.2:p.Glu2858Lys | |
| ENST00000665585.2:c.*503G>A | ENSP00000499570.2:n.*503G>A | |
| ENST00000666593.2:c.8941G>A | ENSP00000499256.2:p.Glu2981Lys | |
| ENST00000700202.2:c.8941G>A | ENSP00000514856.2:p.Glu2981Lys | |
| ENST00000700202.1:c.1408G>A | ENSP00000514856.1:p.Glu470Lys | |
| ENST00000700203.1:n.1068G>A | ||
| ENST00000380152.8:c.8941G>A MANE Select | ENSP00000369497.3:p.Glu2981Lys | |
| ENST00000544455.6:c.8941G>A | ENSP00000439902.1:p.Glu2981Lys | |
| ENST00000614259.2:c.8949G>A | ENSP00000506251.1:n.8949G>A | |
| ENST00000665585.1:c.1819G>A | ||
| ENST00000680887.1:c.8941G>A | ENSP00000505508.1:p.Glu2981Lys | |
| ENST00000380152.7:c.8941G>A | ENSP00000369497.3:p.Glu2981Lys | |
| ENST00000544455.5:c.8941G>A | ENSP00000439902.1:p.Glu2981Lys | |
| NM_000059.3:c.8941G>A , LRG_293t1:c.8941G>A | NP_000050.2:p.Glu2981Lys | |
| XM_011535203.1:c.8941G>A | XP_011533505.1:p.Glu2981Lys | |
| XM_011535204.1:c.8845G>A | XP_011533506.1:p.Glu2949Lys | |
| XM_011535205.1:c.8755-247G>A | XP_011533507.1:n.8755-247G>A | |
| NM_000059.4:c.8941G>A MANE Select | NP_000050.3:p.Glu2981Lys |