Linked Data
ClinVar Variation Id:
1009600
dbSNP Id:
rs144965179
ExAC:
18:29178625 A / G
gnomAD v2:
18-29178625-A-G
gnomAD v3:
18-31598662-A-G
gnomAD v4:
18-31598662-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598662A>G , CM000680.2:g.31598662A>G | GRCh38 |
| NC_000018.9:g.29178625A>G , CM000680.1:g.29178625A>G | GRCh37 |
| NC_000018.8:g.27432623A>G | NCBI36 |
| NG_009490.1:g.11896A>G , LRG_416:g.11896A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.431A>G MANE Select | ENSP00000237014.4:p.Asn144Ser | |
| ENST00000610404.5:c.335A>G | ENSP00000477599.2:p.Asn112Ser | |
| ENST00000649620.1:c.431A>G | ENSP00000497927.1:p.Asn144Ser | |
| ENST00000237014.7:c.431A>G | ENSP00000237014.3:p.Asn144Ser | |
| ENST00000610404.4:c.545A>G | ENSP00000477599.1:p.Asn182Ser | |
| ENST00000613781.1:c.407A>G | ENSP00000479174.1:p.Asn136Ser | |
| NM_000371.3:c.431A>G , LRG_416t1:c.431A>G | NP_000362.1:p.Asn144Ser | |
| NM_000371.4:c.431A>G MANE Select | NP_000362.1:p.Asn144Ser |