Linked Data
ClinVar Variation Id:
372261
dbSNP Id:
rs1057517689
gnomAD v2:
1-40431162-C-T
gnomAD v3:
1-39965490-C-T
gnomAD v4:
1-39965490-C-T
PubMed:
PMID:26005868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39965490C>T , CM000663.2:g.39965490C>T | GRCh38 |
| NC_000001.10:g.40431162C>T , CM000663.1:g.40431162C>T | GRCh37 |
| NC_000001.9:g.40203749C>T | NCBI36 |
| NG_053084.1:g.15379C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372811.10:c.497C>T MANE Select | ENSP00000361898.6:p.Ser166Leu | |
| ENST00000372809.5:c.536C>T | ENSP00000361895.5:p.Ser179Leu | |
| ENST00000372811.9:c.497C>T | ENSP00000361898.5:p.Ser166Leu | |
| ENST00000420632.6:c.29C>T | ENSP00000391261.2:p.Ser10Leu | |
| ENST00000434861.5:c.491C>T | ENSP00000407606.1:p.Ser164Leu | |
| ENST00000469745.5:n.409C>T | ||
| ENST00000480630.5:n.1144C>T | ||
| ENST00000483824.5:n.632C>T | ||
| NM_001136493.2:c.536C>T | NP_001129965.1:p.Ser179Leu | |
| NM_001287808.1:c.29C>T | NP_001274737.1:p.Ser10Leu | |
| NM_001287809.1:c.386C>T | NP_001274738.1:p.Ser129Leu | |
| NM_032793.4:c.497C>T | NP_116182.2:p.Ser166Leu | |
| NR_109896.1:n.678C>T | ||
| XM_005271285.1:c.491C>T | XP_005271342.1:p.Ser164Leu | |
| XM_011542312.1:c.497C>T | XP_011540614.1:p.Ser166Leu | |
| XR_946783.1:n.645C>T | ||
| NM_001349821.1:c.491C>T | NP_001336750.1:p.Ser164Leu | |
| NM_001349822.1:c.497C>T | NP_001336751.1:p.Ser166Leu | |
| NM_001349823.1:c.152C>T | NP_001336752.1:p.Ser51Leu | |
| NM_001136493.3:c.536C>T | NP_001129965.1:p.Ser179Leu | |
| NM_001287809.2:c.386C>T | NP_001274738.1:p.Ser129Leu | |
| NM_001349821.2:c.491C>T | NP_001336750.1:p.Ser164Leu | |
| NM_001349822.2:c.497C>T | NP_001336751.1:p.Ser166Leu | |
| NM_001349823.2:c.152C>T | NP_001336752.1:p.Ser51Leu | |
| NM_032793.5:c.497C>T MANE Select | NP_116182.2:p.Ser166Leu | |
| NR_109896.2:n.645C>T | ||
| NM_001287808.2:c.29C>T | NP_001274737.1:p.Ser10Leu |