Linked Data
ClinVar Variation Id:
48147
dbSNP Id:
rs3796242
ExAC:
3:150690439 T / A
gnomAD v2:
3-150690439-T-A
gnomAD v3:
3-150972652-T-A
gnomAD v4:
3-150972652-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972652T>A , CM000665.2:g.150972652T>A | GRCh38 |
| NC_000003.11:g.150690439T>A , CM000665.1:g.150690439T>A | GRCh37 |
| NC_000003.10:g.152173129T>A | NCBI36 |
| NG_009168.1:g.5348A>T , LRG_700:g.5348A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.57A>T MANE Select | ENSP00000322280.1:p.Ala19= | |
| ENST00000468836.2:c.33A>T | ENSP00000419892.2:p.Ala11= | |
| ENST00000327047.5:c.57A>T | ENSP00000322280.1:p.Ala19= | |
| ENST00000328863.8:c.57A>T | ENSP00000329158.4:p.Ala19= | |
| ENST00000468836.1:c.-344A>T | ENSP00000419892.1:n.-344A>T | |
| ENST00000472224.1:n.63A>T | ||
| NM_001195794.1:c.57A>T , LRG_700t1:c.57A>T | NP_001182723.1:p.Ala19= | |
| NM_001256819.1:c.57A>T | NP_001243748.1:p.Ala19= | |
| NM_174878.2:c.57A>T | NP_777367.1:p.Ala19= | |
| NR_046380.2:n.348A>T | ||
| XR_924167.1:n.369A>T | ||
| NM_001256819.2:c.57A>T | NP_001243748.1:p.Ala19= | |
| NM_174878.3:c.57A>T MANE Select | NP_777367.1:p.Ala19= | |
| NR_046380.3:n.76A>T |