Linked Data
ClinVar Variation Id:
344448
dbSNP Id:
rs369250510
ExAC:
3:190106245 C / G
gnomAD v2:
3-190106245-C-G
gnomAD v3:
3-190388456-C-G
gnomAD v4:
3-190388456-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388456C>G , CM000665.2:g.190388456C>G | GRCh38 |
| NC_000003.11:g.190106245C>G , CM000665.1:g.190106245C>G | GRCh37 |
| NC_000003.10:g.191588939C>G | NCBI36 |
| NG_008149.1:g.5405C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.114+13C>G MANE Select | ENSP00000264734.3:n.114+13C>G | |
| ENST00000456423.2:c.114+13C>G | ENSP00000414136.2:n.114+13C>G | |
| ENST00000264734.2:c.324+13C>G | ENSP00000264734.2:n.324+13C>G | |
| ENST00000456423.1:c.324+13C>G | ENSP00000414136.1:n.324+13C>G | |
| ENST00000468220.1:n.306+13853C>G | ||
| NM_006580.3:c.324+13C>G | NP_006571.1:n.324+13C>G | |
| NM_001378492.1:c.114+13C>G | NP_001365421.1:n.114+13C>G | |
| NM_001378493.1:c.114+13C>G | NP_001365422.1:n.114+13C>G | |
| NM_006580.4:c.114+13C>G MANE Select | NP_006571.2:n.114+13C>G |