Linked Data
ClinVar Variation Id:
132637
dbSNP Id:
rs45495503
ExAC:
15:43498537 C / T
gnomAD v2:
15-43498537-C-T
gnomAD v3:
15-43206339-C-T
gnomAD v4:
15-43206339-C-T
PubMed:
PMID:19508687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43206339C>T , CM000677.2:g.43206339C>T | GRCh38 |
| NC_000015.9:g.43498537C>T , CM000677.1:g.43498537C>T | GRCh37 |
| NC_000015.8:g.41285829C>T | NCBI36 |
| NG_011505.1:g.19787G>A | |
| NG_011505.2:g.24518G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.1609G>A MANE Select | ENSP00000396616.2:p.Ala537Thr | |
| ENST00000567019.2:n.1115G>A | ||
| ENST00000648595.1:c.1699G>A | ENSP00000497777.1:p.Ala567Thr | |
| ENST00000300215.7:c.1699G>A | ENSP00000300215.3:p.Ala567Thr | |
| ENST00000441366.6:c.1609G>A | ENSP00000396616.2:p.Ala537Thr | |
| ENST00000540029.5:c.1375G>A | ENSP00000444699.1:p.Ala459Thr | |
| ENST00000563128.5:n.143G>A | ||
| ENST00000565459.1:c.332G>A | ||
| ENST00000567019.1:n.1124G>A | ||
| ENST00000568508.5:c.1468G>A | ENSP00000457140.1:p.Ala490Thr | |
| ENST00000622454.4:c.1393G>A | ENSP00000481226.1:p.Ala465Thr | |
| NM_000119.2:c.1699G>A | NP_000110.2:p.Ala567Thr | |
| NM_001114134.1:c.1609G>A | NP_001107606.1:p.Ala537Thr | |
| XM_005254225.1:c.1504G>A | XP_005254282.1:p.Ala502Thr | |
| XM_011521349.1:c.1699G>A | XP_011519651.1:p.Ala567Thr | |
| XM_011521350.1:c.1699G>A | XP_011519652.1:p.Ala567Thr | |
| XM_011521351.1:c.1699G>A | XP_011519653.1:p.Ala567Thr | |
| XM_011521352.1:c.1663G>A | XP_011519654.1:p.Ala555Thr | |
| XM_011521353.1:c.1594G>A | XP_011519655.1:p.Ala532Thr | |
| XM_011521354.1:c.1144G>A | XP_011519656.1:p.Ala382Thr | |
| NM_000119.3:c.1699G>A | NP_000110.2:p.Ala567Thr | |
| XM_011521349.2:c.1699G>A | XP_011519651.1:p.Ala567Thr | |
| XM_011521350.2:c.1699G>A | XP_011519652.1:p.Ala567Thr | |
| XM_011521351.2:c.1699G>A | XP_011519653.1:p.Ala567Thr | |
| XM_011521352.2:c.1663G>A | XP_011519654.1:p.Ala555Thr | |
| XM_011521353.2:c.1594G>A | XP_011519655.1:p.Ala532Thr | |
| XM_011521354.2:c.1144G>A | XP_011519656.1:p.Ala382Thr | |
| NM_001114134.2:c.1609G>A MANE Select | NP_001107606.1:p.Ala537Thr |