Linked Data
ClinVar Variation Id:
1425044
ClinVar RCV Id:
RCV001924229
dbSNP Id:
rs778723001
ExAC:
5:34935837 C / G
gnomAD v2:
5-34935837-C-G
gnomAD v3:
5-34935732-C-G
gnomAD v4:
5-34935732-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34935732C>G , CM000667.2:g.34935732C>G | GRCh38 |
| NC_000005.9:g.34935837C>G , CM000667.1:g.34935837C>G | GRCh37 |
| NC_000005.8:g.34971594C>G | NCBI36 |
| NG_052822.1:g.11193C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506762.2:c.-135C>G | ENSP00000513864.1:n.-135C>G | |
| ENST00000512136.2:n.441C>G | ||
| ENST00000644357.2:c.-135C>G | ENSP00000493850.2:n.-135C>G | |
| ENST00000698657.1:n.372C>G | ||
| ENST00000698658.1:n.372C>G | ||
| ENST00000642285.1:c.-135C>G | ENSP00000493883.1:n.-135C>G | |
| ENST00000642675.1:c.-135C>G | ENSP00000494173.1:n.-135C>G | |
| ENST00000642851.1:c.214C>G | ENSP00000496545.1:p.Leu72Val | |
| ENST00000644357.1:c.-135C>G | ENSP00000493850.1:n.-135C>G | |
| ENST00000646714.1:c.-135C>G | ENSP00000495883.1:n.-135C>G | |
| ENST00000648817.1:c.214C>G MANE Select | ENSP00000497410.1:p.Leu72Val | |
| ENST00000342382.8:c.214C>G | ENSP00000343728.4:p.Leu72Val | |
| ENST00000382021.2:c.214C>G | ENSP00000371451.2:p.Leu72Val | |
| NM_001012339.2:c.214C>G | NP_001012339.2:p.Leu72Val | |
| NM_194283.3:c.214C>G | NP_919259.3:p.Leu72Val | |
| XM_005248249.3:c.214C>G | XP_005248306.1:p.Leu72Val | |
| XM_005248250.2:c.214C>G | XP_005248307.1:p.Leu72Val | |
| XM_011513965.1:c.214C>G | XP_011512267.1:p.Leu72Val | |
| XM_011513966.1:c.214C>G | XP_011512268.1:p.Leu72Val | |
| NM_001012339.3:c.214C>G MANE Select | NP_001012339.2:p.Leu72Val | |
| NM_001348420.1:c.214C>G | NP_001335349.1:p.Leu72Val | |
| XM_005248250.3:c.475C>G | XP_005248307.2:p.Leu159Val | |
| XM_011513965.2:c.475C>G | XP_011512267.2:p.Leu159Val | |
| XM_011513966.2:c.475C>G | XP_011512268.2:p.Leu159Val | |
| NM_001348420.2:c.214C>G | NP_001335349.1:p.Leu72Val | |
| NM_194283.4:c.214C>G | NP_919259.3:p.Leu72Val |