Linked Data
ClinVar Variation Id:
316025
dbSNP Id:
rs180830933
ExAC:
15:43507513 G / A
gnomAD v2:
15-43507513-G-A
gnomAD v3:
15-43215315-G-A
gnomAD v4:
15-43215315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43215315G>A , CM000677.2:g.43215315G>A | GRCh38 |
| NC_000015.9:g.43507513G>A , CM000677.1:g.43507513G>A | GRCh37 |
| NC_000015.8:g.41294805G>A | NCBI36 |
| NG_011505.1:g.10811C>T | |
| NG_011505.2:g.15542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.210C>T MANE Select | ENSP00000396616.2:p.Ser70= | |
| ENST00000648595.1:c.300C>T | ENSP00000497777.1:p.Ser100= | |
| ENST00000300215.7:c.300C>T | ENSP00000300215.3:p.Ser100= | |
| ENST00000441366.6:c.210C>T | ENSP00000396616.2:p.Ser70= | |
| ENST00000540029.5:c.196+953C>T | ENSP00000444699.1:n.196+953C>T | |
| ENST00000568508.5:c.69C>T | ENSP00000457140.1:p.Ser23= | |
| ENST00000622454.4:c.210C>T | ENSP00000481226.1:p.Ser70= | |
| NM_000119.2:c.300C>T | NP_000110.2:p.Ser100= | |
| NM_001114134.1:c.210C>T | NP_001107606.1:p.Ser70= | |
| XM_005254225.1:c.210C>T | XP_005254282.1:p.Ser70= | |
| XM_011521349.1:c.300C>T | XP_011519651.1:p.Ser100= | |
| XM_011521350.1:c.300C>T | XP_011519652.1:p.Ser100= | |
| XM_011521351.1:c.300C>T | XP_011519653.1:p.Ser100= | |
| XM_011521352.1:c.300C>T | XP_011519654.1:p.Ser100= | |
| XM_011521353.1:c.300C>T | XP_011519655.1:p.Ser100= | |
| NM_000119.3:c.300C>T | NP_000110.2:p.Ser100= | |
| XM_011521349.2:c.300C>T | XP_011519651.1:p.Ser100= | |
| XM_011521350.2:c.300C>T | XP_011519652.1:p.Ser100= | |
| XM_011521351.2:c.300C>T | XP_011519653.1:p.Ser100= | |
| XM_011521352.2:c.300C>T | XP_011519654.1:p.Ser100= | |
| XM_011521353.2:c.300C>T | XP_011519655.1:p.Ser100= | |
| NM_001114134.2:c.210C>T MANE Select | NP_001107606.1:p.Ser70= |