Linked Data
ClinVar Variation Id:
403889
dbSNP Id:
rs774536123
ExAC:
1:193181590 C / G
gnomAD v2:
1-193181590-C-G
gnomAD v3:
1-193212460-C-G
gnomAD v4:
1-193212460-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193212460C>G , CM000663.2:g.193212460C>G | GRCh38 |
| NC_000001.10:g.193181590C>G , CM000663.1:g.193181590C>G | GRCh37 |
| NC_000001.9:g.191448213C>G | NCBI36 |
| NG_012691.1:g.95503C>G , LRG_507:g.95503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1137C>G MANE Select | ENSP00000356405.4:p.Asp379Glu | |
| ENST00000635846.1:c.894C>G | ENSP00000490035.1:p.Asp298Glu | |
| ENST00000643006.1:c.*47C>G | ENSP00000496633.1:n.*47C>G | |
| ENST00000648071.1:c.*1113C>G | ENSP00000497513.1:n.*1113C>G | |
| ENST00000649613.1:n.387C>G | ||
| ENST00000649895.1:n.1355C>G | ||
| ENST00000650197.1:c.1137C>G | ENSP00000496929.1:p.Asp379Glu | |
| ENST00000367435.3:c.1137C>G | ENSP00000356405.3:p.Asp379Glu | |
| NM_024529.4:c.1137C>G , LRG_507t1:c.1137C>G | NP_078805.3:p.Asp379Glu | |
| NM_024529.5:c.1137C>G MANE Select | NP_078805.3:p.Asp379Glu |