Linked Data
ClinVar Variation Id:
64810
dbSNP Id:
rs397514859
ExAC:
9:135772614 G / C
gnomAD v2:
9-135772614-G-C
gnomAD v3:
9-132897227-G-C
gnomAD v4:
9-132897227-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132897227G>C , CM000671.2:g.132897227G>C | GRCh38 |
| NC_000009.11:g.135772614G>C , CM000671.1:g.135772614G>C | GRCh37 |
| NC_000009.10:g.134762435G>C | NCBI36 |
| NG_012386.1:g.52407C>G , LRG_486:g.52407C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2929C>G | ENSP00000496126.2:p.Leu977Val | |
| ENST00000490179.4:c.2932C>G | ENSP00000495533.2:p.Leu978Val | |
| ENST00000642261.2:c.*788C>G | ENSP00000494743.2:n.*788C>G | |
| ENST00000643275.2:c.*872C>G | ENSP00000495598.2:n.*872C>G | |
| ENST00000643362.2:c.2545C>G | ENSP00000496398.2:p.Leu849Val | |
| ENST00000643625.2:c.*674C>G | ENSP00000495546.2:n.*674C>G | |
| ENST00000643691.2:c.2569C>G | ENSP00000494916.2:p.Leu857Val | |
| ENST00000644184.2:c.2890C>G | ENSP00000495428.2:p.Leu964Val | |
| ENST00000645129.2:c.2776C>G | ENSP00000493639.2:p.Leu926Val | |
| ENST00000646440.2:c.2932C>G | ENSP00000495830.2:p.Leu978Val | |
| ENST00000298552.9:c.2932C>G MANE Select | ENSP00000298552.3:p.Leu978Val | |
| ENST00000642261.1:c.1069C>G | ||
| ENST00000642617.1:c.2929C>G | ENSP00000493773.1:p.Leu977Val | |
| ENST00000642627.1:c.2914C>G | ENSP00000496772.1:p.Leu972Val | |
| ENST00000642811.1:c.*2702C>G | ENSP00000495554.1:n.*2702C>G | |
| ENST00000643072.1:c.2779C>G | ENSP00000496691.1:p.Leu927Val | |
| ENST00000643275.1:c.1406C>G | ENSP00000495598.1:n.1406C>G | |
| ENST00000643583.1:c.2917C>G | ENSP00000494685.1:p.Leu973Val | |
| ENST00000643625.1:c.809C>G | ENSP00000495546.1:n.809C>G | |
| ENST00000643875.1:c.2932C>G | ENSP00000495158.1:p.Leu978Val | |
| ENST00000644097.1:c.2929C>G | ENSP00000494682.1:p.Leu977Val | |
| ENST00000644184.1:c.1627C>G | ENSP00000495428.1:p.Leu543Val | |
| ENST00000644255.1:c.*2699C>G | ENSP00000493608.1:n.*2699C>G | |
| ENST00000644319.1:n.3307C>G | ||
| ENST00000644786.1:n.591C>G | ||
| ENST00000644882.1:n.1840C>G | ||
| ENST00000645901.1:n.3783C>G | ||
| ENST00000646391.1:c.*2702C>G | ENSP00000494104.1:n.*2702C>G | |
| ENST00000646625.1:c.2932C>G | ENSP00000496263.1:p.Leu978Val | |
| ENST00000647262.1:n.1897C>G | ||
| ENST00000647279.1:c.*2171C>G | ENSP00000494502.1:n.*2171C>G | |
| ENST00000647534.1:n.1996C>G | ||
| ENST00000298552.7:c.2932C>G | ENSP00000298552.3:p.Leu978Val | |
| ENST00000440111.6:c.2932C>G | ENSP00000394524.2:p.Leu978Val | |
| ENST00000545250.5:c.2779C>G | ENSP00000444017.1:p.Leu927Val | |
| NM_000368.4:c.2932C>G , LRG_486t1:c.2932C>G | NP_000359.1:p.Leu978Val | |
| NM_001162426.1:c.2929C>G | NP_001155898.1:p.Leu977Val | |
| NM_001162427.1:c.2779C>G | NP_001155899.1:p.Leu927Val | |
| XM_005272211.1:c.2932C>G | XP_005272268.1:p.Leu978Val | |
| XM_006717271.1:c.2932C>G | XP_006717334.1:p.Leu978Val | |
| XM_011518979.1:c.2932C>G | XP_011517281.1:p.Leu978Val | |
| NM_001362177.1:c.2569C>G | NP_001349106.1:p.Leu857Val | |
| XM_011518979.2:c.2932C>G | XP_011517281.1:p.Leu978Val | |
| XM_017015096.1:c.2932C>G | XP_016870585.1:p.Leu978Val | |
| XM_017015097.1:c.2932C>G | XP_016870586.1:p.Leu978Val | |
| XM_017015098.1:c.2929C>G | XP_016870587.1:p.Leu977Val | |
| XM_017015100.1:c.2569C>G | XP_016870589.1:p.Leu857Val | |
| XM_017015101.1:c.2566C>G | XP_016870590.1:p.Leu856Val | |
| NM_000368.5:c.2932C>G MANE Select | NP_000359.1:p.Leu978Val | |
| NM_001162426.2:c.2929C>G | NP_001155898.1:p.Leu977Val | |
| NM_001162427.2:c.2779C>G | NP_001155899.1:p.Leu927Val | |
| NM_001362177.2:c.2569C>G | NP_001349106.1:p.Leu857Val |