Linked Data
dbSNP Id:
rs372419456
gnomAD v2:
3-186336460-C-G
gnomAD v3:
3-186618671-C-G
gnomAD v4:
3-186618671-C-G
MyVariant Identifiers:
chr3:g.186336460_186336461delinsGG (hg19)
chr3:g.186618671_186618672delinsGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618671C>G , CM000665.2:g.186618671C>G | GRCh38 |
| NC_000003.11:g.186336460C>G , CM000665.1:g.186336460C>G | GRCh37 |
| NC_000003.10:g.187819154C>G | NCBI36 |
| NG_011436.1:g.10611C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.675+34C>G MANE Select | ENSP00000393887.2:n.675+34C>G | |
| ENST00000273784.5:c.678+34C>G | ENSP00000273784.5:n.678+34C>G | |
| ENST00000411641.6:c.675+34C>G | ENSP00000393887.2:n.675+34C>G | |
| NM_001622.2:c.675+34C>G | NP_001613.2:n.675+34C>G | |
| NM_001354571.1:c.678+34C>G | NP_001341500.1:n.678+34C>G | |
| NM_001354572.1:c.672+34C>G | NP_001341501.1:n.672+34C>G | |
| NM_001354573.1:c.675+34C>G | NP_001341502.1:n.675+34C>G | |
| NM_001622.3:c.675+34C>G | NP_001613.2:n.675+34C>G | |
| NM_001622.4:c.675+34C>G MANE Select | NP_001613.2:n.675+34C>G | |
| NM_001354571.2:c.678+34C>G | NP_001341500.1:n.678+34C>G | |
| NM_001354572.2:c.672+34C>G | NP_001341501.1:n.672+34C>G | |
| NM_001354573.2:c.675+34C>G | NP_001341502.1:n.675+34C>G |