Linked Data
ClinVar Variation Id:
304051
ClinVar RCV Id:
RCV000320451
RCV000346143
RCV000384319
RCV001103213
RCV001544276
RCV001544277
RCV001544278
RCV001712011
RCV003388579
dbSNP Id:
rs3842753
ExAC:
11:2181060 T / G
gnomAD v2:
11-2181060-T-G
gnomAD v3:
11-2159830-T-G
gnomAD v4:
11-2159830-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159830T>G , CM000673.2:g.2159830T>G | GRCh38 |
| NC_000011.9:g.2181060T>G , CM000673.1:g.2181060T>G | GRCh37 |
| NC_000011.8:g.2137636T>G | NCBI36 |
| NG_007114.1:g.6365A>C | |
| NG_050578.1:g.6380A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381330.5:c.*22A>C (INS) MANE Select | ENSP00000370731.5:n.*22A>C | |
| ENST00000250971.7:c.*22A>C (INS) | ENSP00000250971.3:n.*22A>C | |
| ENST00000356578.8:c.187+955A>C (INS-IGF2) | ENSP00000348986.4:n.187+955A>C | |
| ENST00000381330.4:c.*22A>C (INS) | ENSP00000370731.4:n.*22A>C | |
| ENST00000397262.5:c.*22A>C (INS) | ENSP00000380432.1:n.*22A>C | |
| ENST00000397270.1:c.187+955A>C (INS-IGF2) | ENSP00000380440.1:n.187+955A>C | |
| ENST00000421783.1:c.230A>C (INS) | ENSP00000408400.1:p.His77Pro | |
| NM_000207.2:c.*22A>C (INS) | NP_000198.1:n.*22A>C | |
| NM_001042376.2:c.187+955A>C (INS-IGF2) | NP_001035835.1:n.187+955A>C | |
| NM_001185097.1:c.*22A>C (INS) | NP_001172026.1:n.*22A>C | |
| NM_001185098.1:c.*22A>C (INS) | NP_001172027.1:n.*22A>C | |
| NM_001291897.1:c.*22A>C (INS) | NP_001278826.1:n.*22A>C | |
| NR_003512.3:n.246+955A>C (INS-IGF2) | ||
| NM_000207.3:c.*22A>C (INS) MANE Select | NP_000198.1:n.*22A>C | |
| NM_001042376.3:c.187+955A>C (INS-IGF2) | NP_001035835.1:n.187+955A>C | |
| NM_001185097.2:c.*22A>C (INS) | NP_001172026.1:n.*22A>C | |
| NM_001291897.2:c.*22A>C (INS) | NP_001278826.1:n.*22A>C | |
| NR_003512.4:n.246+955A>C (INS-IGF2) | ||
| NM_001185098.2:c.*22A>C (INS) | NP_001172027.1:n.*22A>C |