Linked Data
ClinVar Variation Id:
439552
ClinVar RCV Id:
RCV000506762
dbSNP Id:
rs374976508
ExAC:
4:47663839 A / T
gnomAD v2:
4-47663839-A-T
gnomAD v3:
4-47661822-A-T
gnomAD v4:
4-47661822-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47661822A>T , CM000666.2:g.47661822A>T | GRCh38 |
| NC_000004.11:g.47663839A>T , CM000666.1:g.47663839A>T | GRCh37 |
| NC_000004.10:g.47358596A>T | NCBI36 |
| NG_032679.1:g.181221T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273857.9:c.1624T>A MANE Select | ENSP00000273857.4:p.Ser542Thr | |
| ENST00000273857.8:c.1624T>A | ENSP00000273857.4:p.Ser542Thr | |
| ENST00000502252.5:c.1423T>A | ENSP00000424212.1:p.Ser475Thr | |
| ENST00000503821.5:n.1631T>A | ||
| ENST00000504584.1:c.1513T>A | ENSP00000423216.1:p.Ser505Thr | |
| ENST00000505754.1:n.39T>A | ||
| ENST00000505909.5:c.1513T>A | ENSP00000425401.1:p.Ser505Thr | |
| ENST00000508498.5:c.1207T>A | ENSP00000425597.1:p.Ser403Thr | |
| ENST00000610355.4:c.1312T>A | ENSP00000484087.1:p.Ser438Thr | |
| NM_001278585.1:c.1312T>A | NP_001265514.1:p.Ser438Thr | |
| NM_001278586.1:c.1513T>A | NP_001265515.1:p.Ser505Thr | |
| NM_006587.3:c.1624T>A | NP_006578.2:p.Ser542Thr | |
| NM_006587.4:c.1624T>A MANE Select | NP_006578.2:p.Ser542Thr | |
| NM_001278586.2:c.1513T>A | NP_001265515.1:p.Ser505Thr | |
| NM_001278585.2:c.1312T>A | NP_001265514.1:p.Ser438Thr |