Linked Data
ClinVar Variation Id:
1238224
ClinVar RCV Id:
RCV001638627
dbSNP Id:
rs3832879
ExAC:
12:4481899 C / CG
gnomAD v2:
12-4481899-C-CG
gnomAD v3:
12-4372733-C-CG
gnomAD v4:
12-4372733-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372733_4372734insG , CM000674.2:g.4372733_4372734insG | GRCh38 |
| NC_000012.11:g.4481899_4481900insG , CM000674.1:g.4481899_4481900insG | GRCh37 |
| NC_000012.10:g.4352160_4352161insG | NCBI36 |
| NG_007087.1:g.11995_11996insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.212-37_212-36insC MANE Select | ENSP00000237837.1:n.212-37_212-36insC | |
| ENST00000648100.1:c.*1967+6451_*1967+6452insG | ENSP00000497536.1:n.*1967+6451_*1967+6452insG | |
| ENST00000648269.1:n.1675_1676insC | ||
| ENST00000674624.1:c.*1204+6451_*1204+6452insG | ENSP00000501898.1:n.*1204+6451_*1204+6452insG | |
| ENST00000237837.1:c.212-37_212-36insC | ENSP00000237837.1:n.212-37_212-36insC | |
| NM_020638.2:c.212-37_212-36insC | NP_065689.1:n.212-37_212-36insC | |
| NM_020638.3:c.212-37_212-36insC MANE Select | NP_065689.1:n.212-37_212-36insC |