Linked Data
ClinVar Variation Id:
255531
ClinVar RCV Id:
RCV000249051
RCV000289877
RCV000344882
RCV000402726
RCV001103214
RCV001651115
RCV002221215
dbSNP Id:
rs3842752
ExAC:
11:2181073 G / A
gnomAD v2:
11-2181073-G-A
gnomAD v3:
11-2159843-G-A
gnomAD v4:
11-2159843-G-A
PubMed:
PMID:12610512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159843G>A , CM000673.2:g.2159843G>A | GRCh38 |
| NC_000011.9:g.2181073G>A , CM000673.1:g.2181073G>A | GRCh37 |
| NC_000011.8:g.2137649G>A | NCBI36 |
| NG_007114.1:g.6352C>T | |
| NG_050578.1:g.6367C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381330.5:c.*9C>T (INS) MANE Select | ENSP00000370731.5:n.*9C>T | |
| ENST00000250971.7:c.*9C>T (INS) | ENSP00000250971.3:n.*9C>T | |
| ENST00000356578.8:c.187+942C>T (INS-IGF2) | ENSP00000348986.4:n.187+942C>T | |
| ENST00000381330.4:c.*9C>T (INS) | ENSP00000370731.4:n.*9C>T | |
| ENST00000397262.5:c.*9C>T (INS) | ENSP00000380432.1:n.*9C>T | |
| ENST00000397270.1:c.187+942C>T (INS-IGF2) | ENSP00000380440.1:n.187+942C>T | |
| ENST00000421783.1:c.217C>T (INS) | ENSP00000408400.1:p.Arg73Cys | |
| NM_000207.2:c.*9C>T (INS) | NP_000198.1:n.*9C>T | |
| NM_001042376.2:c.187+942C>T (INS-IGF2) | NP_001035835.1:n.187+942C>T | |
| NM_001185097.1:c.*9C>T (INS) | NP_001172026.1:n.*9C>T | |
| NM_001185098.1:c.*9C>T (INS) | NP_001172027.1:n.*9C>T | |
| NM_001291897.1:c.*9C>T (INS) | NP_001278826.1:n.*9C>T | |
| NR_003512.3:n.246+942C>T (INS-IGF2) | ||
| NM_000207.3:c.*9C>T (INS) MANE Select | NP_000198.1:n.*9C>T | |
| NM_001042376.3:c.187+942C>T (INS-IGF2) | NP_001035835.1:n.187+942C>T | |
| NM_001185097.2:c.*9C>T (INS) | NP_001172026.1:n.*9C>T | |
| NM_001291897.2:c.*9C>T (INS) | NP_001278826.1:n.*9C>T | |
| NR_003512.4:n.246+942C>T (INS-IGF2) | ||
| NM_001185098.2:c.*9C>T (INS) | NP_001172027.1:n.*9C>T |