Linked Data
ClinVar Variation Id:
181705
ClinVar RCV Id:
RCV000159440
dbSNP Id:
rs730881172
ExAC:
18:29171917 T / G
gnomAD v2:
18-29171917-T-G
gnomAD v4:
18-31591954-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31591954T>G , CM000680.2:g.31591954T>G | GRCh38 |
| NC_000018.9:g.29171917T>G , CM000680.1:g.29171917T>G | GRCh37 |
| NC_000018.8:g.27425915T>G | NCBI36 |
| NG_009490.1:g.5188T>G , LRG_416:g.5188T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.52T>G MANE Select | ENSP00000237014.4:p.Ser18Ala | |
| ENST00000610404.5:c.-27-942T>G | ENSP00000477599.2:n.-27-942T>G | |
| ENST00000613781.2:c.52T>G | ENSP00000479174.2:p.Ser18Ala | |
| ENST00000649620.1:c.52T>G | ENSP00000497927.1:p.Ser18Ala | |
| ENST00000676075.1:c.52T>G | ENSP00000502027.1:p.Ser18Ala | |
| ENST00000237014.7:c.52T>G | ENSP00000237014.3:p.Ser18Ala | |
| ENST00000432547.7:n.78T>G | ||
| ENST00000541025.2:n.78T>G | ||
| ENST00000610404.4:c.52T>G | ENSP00000477599.1:p.Ser18Ala | |
| ENST00000613781.1:c.52T>G | ENSP00000479174.1:p.Ser18Ala | |
| NM_000371.3:c.52T>G , LRG_416t1:c.52T>G | NP_000362.1:p.Ser18Ala | |
| NM_000371.4:c.52T>G MANE Select | NP_000362.1:p.Ser18Ala |