Linked Data
ClinVar Variation Id:
2106499
ClinVar RCV Id:
RCV003045388
MyVariant Identifiers:
chr12:g.7170226C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7062922C>G , CM000674.2:g.7062922C>G | GRCh38 |
| NC_000012.11:g.7170226C>G , CM000674.1:g.7170226C>G | GRCh37 |
| NC_000012.10:g.7040487C>G | NCBI36 |
| NG_011694.1:g.7247C>G , LRG_25:g.7247C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473545.2:n.831C>G | ||
| ENST00000488701.2:n.763C>G | ||
| ENST00000495053.2:n.576C>G | ||
| ENST00000698563.1:n.789C>G | ||
| ENST00000698564.1:n.762C>G | ||
| ENST00000698565.1:n.982C>G | ||
| ENST00000360817.10:c.246C>G MANE Select | ENSP00000354057.5:p.Leu82= | |
| ENST00000328916.7:c.246C>G | ENSP00000328173.3:p.Leu82= | |
| ENST00000360817.9:c.246C>G | ENSP00000354057.5:p.Leu82= | |
| ENST00000402681.7:c.-256C>G | ENSP00000384171.3:n.-256C>G | |
| ENST00000403949.5:c.246C>G | ENSP00000384464.1:p.Leu82= | |
| ENST00000406697.5:c.246C>G | ENSP00000385035.1:p.Leu82= | |
| ENST00000413211.5:c.246C>G | ENSP00000406643.1:p.Leu82= | |
| ENST00000423384.5:c.246C>G | ENSP00000399892.1:p.Leu82= | |
| ENST00000443875.5:c.320C>G | ||
| ENST00000541647.1:n.228C>G | ||
| ENST00000542978.1:c.-111+260C>G | ENSP00000442298.1:n.-111+260C>G | |
| ENST00000617865.4:c.192C>G | ENSP00000484657.1:p.Leu64= | |
| NM_001734.3:c.246C>G , LRG_25t1:c.246C>G | NP_001725.1:p.Leu82= | |
| NM_201442.2:c.246C>G | NP_958850.1:p.Leu82= | |
| XM_005253760.1:c.246C>G | XP_005253817.1:p.Leu82= | |
| NM_001346850.1:c.-256C>G | NP_001333779.1:n.-256C>G | |
| NM_001734.4:c.246C>G | NP_001725.1:p.Leu82= | |
| NM_201442.3:c.246C>G | NP_958850.1:p.Leu82= | |
| XM_005253760.2:c.246C>G | XP_005253817.1:p.Leu82= | |
| NM_001734.5:c.246C>G MANE Select | NP_001725.1:p.Leu82= | |
| NM_001346850.2:c.-256C>G | NP_001333779.1:n.-256C>G | |
| NM_201442.4:c.246C>G | NP_958850.1:p.Leu82= |