Linked Data
ClinVar Variation Id:
52810
dbSNP Id:
rs80359203
gnomAD v4:
13-32394739-A-G
PubMed:
PMID:19043619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394739A>G , CM000675.2:g.32394739A>G | GRCh38 |
| NC_000013.10:g.32968876A>G , CM000675.1:g.32968876A>G | GRCh37 |
| NC_000013.9:g.31866876A>G | NCBI36 |
| NG_012772.3:g.84260A>G , LRG_293:g.84260A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9307A>G | ENSP00000434898.2:p.Ile3103Val | |
| ENST00000528762.2:c.*674A>G | ENSP00000433168.2:n.*674A>G | |
| ENST00000530893.7:c.8938A>G | ENSP00000499438.2:p.Ile2980Val | |
| ENST00000665585.2:c.*869A>G | ENSP00000499570.2:n.*869A>G | |
| ENST00000666593.2:c.*152A>G | ENSP00000499256.2:n.*152A>G | |
| ENST00000700202.2:c.9256A>G | ENSP00000514856.2:p.Ile3086Val | |
| ENST00000700202.1:c.1723A>G | ENSP00000514856.1:p.Ile575Val | |
| ENST00000700203.1:n.1434A>G | ||
| ENST00000380152.8:c.9307A>G MANE Select | ENSP00000369497.3:p.Ile3103Val | |
| ENST00000544455.6:c.9307A>G | ENSP00000439902.1:p.Ile3103Val | |
| ENST00000614259.2:c.9315A>G | ENSP00000506251.1:n.9315A>G | |
| ENST00000665585.1:c.2185A>G | ||
| ENST00000666593.1:c.329A>G | ENSP00000499256.1:n.329A>G | |
| ENST00000680887.1:c.9307A>G | ENSP00000505508.1:p.Ile3103Val | |
| ENST00000380152.7:c.9307A>G | ENSP00000369497.3:p.Ile3103Val | |
| ENST00000470094.1:c.264A>G | ||
| ENST00000544455.5:c.9307A>G | ENSP00000439902.1:p.Ile3103Val | |
| NM_000059.3:c.9307A>G , LRG_293t1:c.9307A>G | NP_000050.2:p.Ile3103Val | |
| XM_011535203.1:c.9307A>G | XP_011533505.1:p.Ile3103Val | |
| XM_011535204.1:c.9211A>G | XP_011533506.1:p.Ile3071Val | |
| NM_000059.4:c.9307A>G MANE Select | NP_000050.3:p.Ile3103Val |