Linked Data
ClinVar Variation Id:
142313
dbSNP Id:
rs587782375
ExAC:
13:32914028 A / G
gnomAD v2:
13-32914028-A-G
gnomAD v3:
13-32339891-A-G
gnomAD v4:
13-32339891-A-G
PubMed:
PMID:26911350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32339891A>G , CM000675.2:g.32339891A>G | GRCh38 |
| NC_000013.10:g.32914028A>G , CM000675.1:g.32914028A>G | GRCh37 |
| NC_000013.9:g.31812028A>G | NCBI36 |
| NG_012772.3:g.29412A>G , LRG_293:g.29412A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.5536A>G | ENSP00000434898.2:p.Ile1846Val | |
| ENST00000528762.2:c.5536A>G | ENSP00000433168.2:p.Ile1846Val | |
| ENST00000530893.7:c.5167A>G | ENSP00000499438.2:p.Ile1723Val | |
| ENST00000665585.2:c.5536A>G | ENSP00000499570.2:p.Ile1846Val | |
| ENST00000666593.2:c.5536A>G | ENSP00000499256.2:p.Ile1846Val | |
| ENST00000700202.2:c.5536A>G | ENSP00000514856.2:p.Ile1846Val | |
| ENST00000380152.8:c.5536A>G MANE Select | ENSP00000369497.3:p.Ile1846Val | |
| ENST00000544455.6:c.5536A>G | ENSP00000439902.1:p.Ile1846Val | |
| ENST00000614259.2:c.5536A>G | ENSP00000506251.1:p.Ile1846Val | |
| ENST00000680887.1:c.5536A>G | ENSP00000505508.1:p.Ile1846Val | |
| ENST00000380152.7:c.5536A>G | ENSP00000369497.3:p.Ile1846Val | |
| ENST00000544455.5:c.5536A>G | ENSP00000439902.1:p.Ile1846Val | |
| ENST00000614259.1:n.5536A>G | ||
| NM_000059.3:c.5536A>G , LRG_293t1:c.5536A>G | NP_000050.2:p.Ile1846Val | |
| XM_011535203.1:c.5536A>G | XP_011533505.1:p.Ile1846Val | |
| XM_011535204.1:c.5536A>G | XP_011533506.1:p.Ile1846Val | |
| XM_011535205.1:c.5536A>G | XP_011533507.1:p.Ile1846Val | |
| NM_000059.4:c.5536A>G MANE Select | NP_000050.3:p.Ile1846Val |