Linked Data
ClinVar Variation Id:
299215
dbSNP Id:
rs773095721
ExAC:
10:13158287 A / G
gnomAD v2:
10-13158287-A-G
gnomAD v4:
10-13116287-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13116287A>G , CM000672.2:g.13116287A>G | GRCh38 |
| NC_000010.10:g.13158287A>G , CM000672.1:g.13158287A>G | GRCh37 |
| NC_000010.9:g.13198293A>G | NCBI36 |
| NG_012876.1:g.21206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.573A>G MANE Select | ENSP00000368021.3:p.Ser191= | |
| ENST00000263036.9:c.573A>G | ENSP00000263036.3:p.Ser191= | |
| ENST00000378747.7:c.573A>G | ENSP00000368021.3:p.Ser191= | |
| ENST00000378748.7:c.573A>G | ENSP00000368022.3:p.Ser191= | |
| ENST00000378752.7:c.573A>G | ENSP00000368027.3:p.Ser191= | |
| ENST00000378757.6:c.573A>G | ENSP00000368032.2:p.Ser191= | |
| ENST00000378764.6:c.573A>G | ENSP00000368040.1:p.Ser191= | |
| ENST00000424614.1:c.20A>G | ||
| ENST00000430081.5:c.*478A>G | ENSP00000414747.2:n.*478A>G | |
| ENST00000482140.5:c.*193A>G | ENSP00000484961.1:n.*193A>G | |
| ENST00000486862.1:c.170A>G | ||
| NM_001008211.1:c.573A>G | NP_001008212.1:p.Ser191= | |
| NM_001008212.1:c.573A>G | NP_001008213.1:p.Ser191= | |
| NM_001008213.1:c.573A>G | NP_001008214.1:p.Ser191= | |
| NM_021980.4:c.573A>G | NP_068815.2:p.Ser191= | |
| XM_005252336.2:c.573A>G | XP_005252393.2:p.Ser191= | |
| XM_005252337.3:c.573A>G | XP_005252394.2:p.Ser191= | |
| XM_005252338.2:c.402A>G | XP_005252395.2:p.Ser134= | |
| NM_001008212.2:c.573A>G MANE Select | NP_001008213.1:p.Ser191= |