Linked Data
ClinVar Variation Id:
464381
ClinVar RCV Id:
RCV000545640
dbSNP Id:
rs79373393
ExAC:
4:83347266 A / G
gnomAD v2:
4-83347266-A-G
gnomAD v3:
4-82426113-A-G
gnomAD v4:
4-82426113-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.82426113A>G , CM000666.2:g.82426113A>G | GRCh38 |
| NC_000004.11:g.83347266A>G , CM000666.1:g.83347266A>G | GRCh37 |
| NC_000004.10:g.83566290A>G | NCBI36 |
| NG_029681.1:g.9113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295470.10:c.1209T>C MANE Select | ENSP00000295470.5:p.Tyr403= | |
| ENST00000295470.9:c.1209T>C | ENSP00000295470.5:p.Tyr403= | |
| ENST00000349655.8:c.852T>C | ENSP00000338552.5:p.Tyr284= | |
| ENST00000502762.4:c.1209T>C | ENSP00000422040.1:p.Tyr403= | |
| ENST00000507721.5:c.852T>C | ENSP00000480156.1:p.Tyr284= | |
| ENST00000514511.1:c.*347T>C | ENSP00000478269.1:n.*347T>C | |
| ENST00000602300.5:c.852T>C | ENSP00000473677.1:p.Tyr284= | |
| ENST00000614627.4:c.1038T>C | ENSP00000478723.1:p.Tyr346= | |
| ENST00000621267.4:c.1209T>C | ENSP00000483254.1:p.Tyr403= | |
| ENST00000630114.2:c.852T>C | ENSP00000486452.1:p.Tyr284= | |
| ENST00000630827.1:c.852T>C | ENSP00000485954.1:p.Tyr284= | |
| NM_001207000.1:c.1038T>C | NP_001193929.1:p.Tyr346= | |
| NM_031372.3:c.1209T>C | NP_112740.1:p.Tyr403= | |
| NR_003249.2:n.1744T>C | ||
| NM_031372.4:c.1209T>C MANE Select | NP_112740.1:p.Tyr403= |