Linked Data
ClinVar Variation Id:
228478
ClinVar RCV Id:
RCV000214906
dbSNP Id:
rs201472875
ExAC:
3:191092948 G / C
gnomAD v2:
3-191092948-G-C
gnomAD v3:
3-191375159-G-C
gnomAD v4:
3-191375159-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375159G>C , CM000665.2:g.191375159G>C | GRCh38 |
| NC_000003.11:g.191092948G>C , CM000665.1:g.191092948G>C | GRCh37 |
| NC_000003.10:g.192575642G>C | NCBI36 |
| NG_008994.1:g.51075G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.546G>C MANE Select | ENSP00000376249.4:p.Glu182Asp | |
| ENST00000392456.4:c.449-5000G>C | ENSP00000376250.4:n.449-5000G>C | |
| ENST00000392455.7:c.449-5000G>C | ENSP00000376249.3:n.449-5000G>C | |
| ENST00000392456.3:c.546G>C | ENSP00000376250.3:p.Glu182Asp | |
| NM_174908.3:c.449-5000G>C | NP_777568.1:n.449-5000G>C | |
| NM_178335.2:c.546G>C | NP_848018.1:p.Glu182Asp | |
| XM_011512460.1:c.546G>C | XP_011510762.1:p.Glu182Asp | |
| NM_178335.3:c.546G>C MANE Select | NP_848018.1:p.Glu182Asp | |
| NM_174908.4:c.449-5000G>C | NP_777568.1:n.449-5000G>C |