Linked Data
ClinVar Variation Id:
39829
ClinVar RCV Id:
RCV000033050
dbSNP Id:
rs397514614
ExAC:
15:65319214 G / A
gnomAD v2:
15-65319214-G-A
gnomAD v4:
15-65026876-G-A
PubMed:
PMID:21907147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65026876G>A , CM000677.2:g.65026876G>A | GRCh38 |
| NC_000015.9:g.65319214G>A , CM000677.1:g.65319214G>A | GRCh37 |
| NC_000015.8:g.63106267G>A | NCBI36 |
| NG_029184.1:g.7764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220058.9:c.374C>T MANE Select | ENSP00000220058.4:p.Ser125Leu | |
| ENST00000220058.8:c.374C>T | ENSP00000220058.4:p.Ser125Leu | |
| ENST00000543678.1:c.374C>T | ENSP00000443754.1:p.Ser125Leu | |
| ENST00000558460.5:c.374C>T | ENSP00000452646.1:p.Ser125Leu | |
| ENST00000558614.1:n.335C>T | ||
| ENST00000559633.1:n.293C>T | ||
| ENST00000560717.5:c.359C>T | ENSP00000457257.1:p.Ser120Leu | |
| ENST00000561025.1:n.56C>T | ||
| NM_139242.3:c.374C>T | NP_640335.2:p.Ser125Leu | |
| XM_005254158.3:c.119C>T | XP_005254215.1:p.Ser40Leu | |
| XM_005254158.5:c.527C>T | XP_005254215.2:p.Ser176Leu | |
| XR_001751081.1:n.542C>T | ||
| NM_139242.4:c.374C>T MANE Select | NP_640335.2:p.Ser125Leu |