Linked Data
ClinVar Variation Id:
459896
dbSNP Id:
rs1407920390
gnomAD v2:
4-17503434-G-A
gnomAD v3:
4-17501811-G-A
gnomAD v4:
4-17501811-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17501811G>A , CM000666.2:g.17501811G>A | GRCh38 |
| NC_000004.11:g.17503434G>A , CM000666.1:g.17503434G>A | GRCh37 |
| NC_000004.10:g.17112532G>A | NCBI36 |
| NG_008763.1:g.15424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1391C>T | ||
| ENST00000281243.10:c.344C>T MANE Select | ENSP00000281243.5:p.Ser115Leu | |
| ENST00000281243.9:c.344C>T | ENSP00000281243.5:p.Ser115Leu | |
| ENST00000428702.6:c.251C>T | ENSP00000390944.2:p.Ser84Leu | |
| ENST00000505710.1:c.271C>T | ||
| ENST00000507439.5:c.344C>T | ENSP00000423227.1:p.Ser115Leu | |
| ENST00000508623.5:c.344C>T | ENSP00000426377.1:p.Ser115Leu | |
| ENST00000513615.5:c.344C>T | ENSP00000422759.1:p.Ser115Leu | |
| ENST00000514300.1:c.*275C>T | ENSP00000426039.1:n.*275C>T | |
| NM_000320.2:c.344C>T | NP_000311.2:p.Ser115Leu | |
| NM_001306140.1:c.251C>T | NP_001293069.1:p.Ser84Leu | |
| XR_241677.1:n.507C>T | ||
| NR_156494.1:n.524C>T | ||
| NM_000320.3:c.344C>T MANE Select | NP_000311.2:p.Ser115Leu | |
| NM_001306140.2:c.251C>T | NP_001293069.1:p.Ser84Leu | |
| NR_156494.2:n.380C>T |