Linked Data
ClinVar Variation Id:
652849
ClinVar RCV Id:
RCV000808500
dbSNP Id:
rs758549281
ExAC:
13:32953889 A / G
gnomAD v2:
13-32953889-A-G
gnomAD v4:
13-32379752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379752A>G , CM000675.2:g.32379752A>G | GRCh38 |
| NC_000013.10:g.32953889A>G , CM000675.1:g.32953889A>G | GRCh37 |
| NC_000013.9:g.31851889A>G | NCBI36 |
| NG_012772.3:g.69273A>G , LRG_293:g.69273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8956A>G | ENSP00000434898.2:p.Ile2986Val | |
| ENST00000528762.2:c.*323A>G | ENSP00000433168.2:n.*323A>G | |
| ENST00000530893.7:c.8587A>G | ENSP00000499438.2:p.Ile2863Val | |
| ENST00000665585.2:c.*518A>G | ENSP00000499570.2:n.*518A>G | |
| ENST00000666593.2:c.8956A>G | ENSP00000499256.2:p.Ile2986Val | |
| ENST00000700202.2:c.8954-49A>G | ENSP00000514856.2:n.8954-49A>G | |
| ENST00000700202.1:c.1421-49A>G | ENSP00000514856.1:n.1421-49A>G | |
| ENST00000700203.1:n.1083A>G | ||
| ENST00000380152.8:c.8956A>G MANE Select | ENSP00000369497.3:p.Ile2986Val | |
| ENST00000544455.6:c.8956A>G | ENSP00000439902.1:p.Ile2986Val | |
| ENST00000614259.2:c.8964A>G | ENSP00000506251.1:n.8964A>G | |
| ENST00000665585.1:c.1834A>G | ||
| ENST00000680887.1:c.8956A>G | ENSP00000505508.1:p.Ile2986Val | |
| ENST00000380152.7:c.8956A>G | ENSP00000369497.3:p.Ile2986Val | |
| ENST00000544455.5:c.8956A>G | ENSP00000439902.1:p.Ile2986Val | |
| NM_000059.3:c.8956A>G , LRG_293t1:c.8956A>G | NP_000050.2:p.Ile2986Val | |
| XM_011535203.1:c.8956A>G | XP_011533505.1:p.Ile2986Val | |
| XM_011535204.1:c.8860A>G | XP_011533506.1:p.Ile2954Val | |
| XM_011535205.1:c.8757A>G | XP_011533507.1:p.Leu2919= | |
| NM_000059.4:c.8956A>G MANE Select | NP_000050.3:p.Ile2986Val |