Linked Data
ClinVar Variation Id:
1447146
ClinVar RCV Id:
RCV001988129
dbSNP Id:
rs370740871
gnomAD v2:
2-73716829-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489702C>A , CM000664.2:g.73489702C>A | GRCh38 |
| NC_000002.11:g.73716829C>A , CM000664.1:g.73716829C>A | GRCh37 |
| NC_000002.10:g.73570337C>A | NCBI36 |
| NG_011690.1:g.108950C>A , LRG_741:g.108950C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7362C>A | ENSP00000507671.1:p.Ser2454Arg | |
| ENST00000682801.1:c.7362C>A | ENSP00000507862.1:p.Ser2454Arg | |
| ENST00000682859.1:c.7362C>A | ENSP00000508222.1:p.Ser2454Arg | |
| ENST00000683791.1:c.754C>A | ||
| ENST00000684460.1:c.4814C>A | ||
| ENST00000684548.1:c.7362C>A | ENSP00000507421.1:p.Ser2454Arg | |
| ENST00000684590.1:c.1809C>A | ENSP00000507376.1:p.Ser603Arg | |
| ENST00000684656.1:c.4814C>A | ||
| ENST00000613296.6:c.7743C>A MANE Select | ENSP00000482968.1:p.Ser2581Arg | |
| ENST00000651434.1:c.896-30073C>A | ||
| ENST00000423048.5:c.2574C>A | ENSP00000399833.1:p.Ser858Arg | |
| ENST00000484298.5:c.7617C>A | ENSP00000478155.1:p.Ser2539Arg | |
| ENST00000613296.4:c.7743C>A | ENSP00000482968.1:p.Ser2581Arg | |
| ENST00000614410.4:c.7743C>A | ENSP00000479094.1:p.Ser2581Arg | |
| ENST00000620466.4:n.1546C>A | ||
| NM_015120.4:c.7746C>A , LRG_741t1:c.7746C>A | NP_055935.4:p.Ser2582Arg | |
| NM_001378454.1:c.7743C>A MANE Select | NP_001365383.1:p.Ser2581Arg |