Linked Data
ClinVar Variation Id:
56194
ClinVar RCV Id:
RCV000049605
dbSNP Id:
rs386833646
ExAC:
1:40557021 G / A
gnomAD v2:
1-40557021-G-A
gnomAD v3:
1-40091349-G-A
gnomAD v4:
1-40091349-G-A
COSMIC:
COSM3489517
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091349G>A , CM000663.2:g.40091349G>A | GRCh38 |
| NC_000001.10:g.40557021G>A , CM000663.1:g.40557021G>A | GRCh37 |
| NC_000001.9:g.40329608G>A | NCBI36 |
| NG_009192.1:g.11122C>T , LRG_690:g.11122C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*249C>T | ENSP00000361865.5:n.*249C>T | |
| ENST00000433473.8:c.410C>T | ENSP00000394863.4:p.Ser137Leu | |
| ENST00000439754.6:c.413C>T | ENSP00000403207.2:p.Ser138Leu | |
| ENST00000449045.7:c.125-1837C>T | ENSP00000392293.2:n.125-1837C>T | |
| ENST00000526547.2:c.693C>T | ||
| ENST00000527311.7:c.285C>T | ENSP00000436695.3:p.Leu95= | |
| ENST00000530704.6:c.413C>T | ENSP00000431655.1:p.Ser138Leu | |
| ENST00000641083.1:c.391C>T | ||
| ENST00000641236.1:n.650C>T | ||
| ENST00000641319.1:c.413C>T | ENSP00000493128.1:p.Ser138Leu | |
| ENST00000641381.1:c.25C>T | ||
| ENST00000641471.1:c.500C>T | ENSP00000493146.1:p.Ser167Leu | |
| ENST00000641548.1:c.*265C>T | ENSP00000492984.1:n.*265C>T | |
| ENST00000641691.1:c.*265C>T | ENSP00000492910.1:n.*265C>T | |
| ENST00000641924.1:c.124+5766C>T | ENSP00000493063.1:n.124+5766C>T | |
| ENST00000642050.2:c.413C>T MANE Select | ENSP00000493153.1:p.Ser138Leu | |
| ENST00000372779.8:c.500C>T | ENSP00000361865.4:p.Ser167Leu | |
| ENST00000433473.7:c.413C>T | ENSP00000394863.3:p.Ser138Leu | |
| ENST00000439754.5:c.98C>T | ENSP00000403207.1:p.Ser33Leu | |
| ENST00000449045.6:c.125-1837C>T | ENSP00000392293.2:n.125-1837C>T | |
| ENST00000526547.1:c.263C>T | ENSP00000436481.1:p.Ser88Leu | |
| ENST00000527311.6:c.188C>T | ENSP00000436695.2:p.Ser63Leu | |
| ENST00000529905.5:c.413C>T | ENSP00000432053.1:p.Ser138Leu | |
| ENST00000530704.5:c.413C>T | ENSP00000431655.1:p.Ser138Leu | |
| NM_000310.3:c.413C>T , LRG_690t1:c.413C>T | NP_000301.1:p.Ser138Leu | |
| NM_001142604.1:c.125-1837C>T | NP_001136076.1:n.125-1837C>T | |
| XM_005271008.1:c.413C>T | XP_005271065.1:p.Ser138Leu | |
| NM_001363695.1:c.413C>T | NP_001350624.1:p.Ser138Leu | |
| NM_000310.4:c.413C>T MANE Select | NP_000301.1:p.Ser138Leu | |
| NM_001142604.2:c.125-1837C>T | NP_001136076.1:n.125-1837C>T | |
| NM_001363695.2:c.413C>T | NP_001350624.1:p.Ser138Leu |