Linked Data
ClinVar Variation Id:
13391
dbSNP Id:
rs121908260
gnomAD v4:
11-2160835-C-T
PubMed:
PMID:18192540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2160835C>T , CM000673.2:g.2160835C>T | GRCh38 |
| NC_000011.9:g.2182065C>T , CM000673.1:g.2182065C>T | GRCh37 |
| NC_000011.8:g.2138641C>T | NCBI36 |
| NG_007114.1:g.5360G>A | |
| NG_050578.1:g.5375G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381330.5:c.137G>A (INS) MANE Select | ENSP00000370731.5:p.Arg46Gln | |
| ENST00000250971.7:c.137G>A (INS) | ENSP00000250971.3:p.Arg46Gln | |
| ENST00000356578.8:c.137G>A (INS-IGF2) | ENSP00000348986.4:p.Arg46Gln | |
| ENST00000381330.4:c.137G>A (INS) | ENSP00000370731.4:p.Arg46Gln | |
| ENST00000397262.5:c.137G>A (INS) | ENSP00000380432.1:p.Arg46Gln | |
| ENST00000397270.1:c.137G>A (INS-IGF2) | ENSP00000380440.1:p.Arg46Gln | |
| ENST00000421783.1:c.137G>A (INS) | ENSP00000408400.1:p.Arg46Gln | |
| ENST00000512523.1:c.137G>A (INS) | ENSP00000424008.1:p.Arg46Gln | |
| NM_000207.2:c.137G>A (INS) | NP_000198.1:p.Arg46Gln | |
| NM_001042376.2:c.137G>A (INS-IGF2) | NP_001035835.1:p.Arg46Gln | |
| NM_001185097.1:c.137G>A (INS) | NP_001172026.1:p.Arg46Gln | |
| NM_001185098.1:c.137G>A (INS) | NP_001172027.1:p.Arg46Gln | |
| NM_001291897.1:c.137G>A (INS) | NP_001278826.1:p.Arg46Gln | |
| NR_003512.3:n.196G>A (INS-IGF2) | ||
| NM_000207.3:c.137G>A (INS) MANE Select | NP_000198.1:p.Arg46Gln | |
| NM_001042376.3:c.137G>A (INS-IGF2) | NP_001035835.1:p.Arg46Gln | |
| NM_001185097.2:c.137G>A (INS) | NP_001172026.1:p.Arg46Gln | |
| NM_001291897.2:c.137G>A (INS) | NP_001278826.1:p.Arg46Gln | |
| NR_003512.4:n.196G>A (INS-IGF2) | ||
| NM_001185098.2:c.137G>A (INS) | NP_001172027.1:p.Arg46Gln |