Linked Data
ClinVar Variation Id:
2775458
ClinVar RCV Id:
RCV003643086
dbSNP Id:
rs1362778914
gnomAD v2:
18-19751727-T-A
gnomAD v4:
18-22171766-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22171766T>A , CM000680.2:g.22171766T>A | GRCh38 |
| NC_000018.9:g.19751727T>A , CM000680.1:g.19751727T>A | GRCh37 |
| NC_000018.8:g.18005725T>A | NCBI36 |
| NG_032677.1:g.7324T>A | |
| NG_032677.2:g.7330T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269216.10:c.622T>A MANE Select | ENSP00000269216.3:p.Ser208Thr | |
| ENST00000269216.7:c.622T>A | ENSP00000269216.3:p.Ser208Thr | |
| ENST00000581694.1:c.622T>A | ENSP00000462313.1:p.Ser208Thr | |
| NM_005257.5:c.622T>A | NP_005248.2:p.Ser208Thr | |
| NM_005257.6:c.622T>A MANE Select | NP_005248.2:p.Ser208Thr |