Linked Data
ClinVar Variation Id:
40387
ClinVar RCV Id:
RCV000033332
RCV000077865
RCV000208758
RCV000431311
RCV000438697
RCV000424067
RCV000441123
RCV000844615
RCV000856749
RCV001265809
dbSNP Id:
rs397507483
PubMed:
PMID:16439621
PMID:18039235
PMID:18413255
PMID:19376813
PMID:20301365
PMID:25463315
PMID:26619011
ERepo:
CA220161/MONDO:0021060/004
CIViC:
CA220161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753348C>A , CM000669.2:g.140753348C>A | GRCh38 |
| NC_000007.13:g.140453148C>A , CM000669.1:g.140453148C>A | GRCh37 |
| NC_000007.12:g.140099617C>A | NCBI36 |
| NG_007873.3:g.176417G>T , LRG_299:g.176417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1787G>T MANE Select | ENSP00000493543.1:p.Gly596Val | |
| ENST00000288602.11:c.1907G>T | ENSP00000288602.7:p.Gly636Val | |
| ENST00000479537.6:c.457G>T | ||
| ENST00000496384.7:c.1787G>T | ENSP00000419060.2:p.Gly596Val | |
| ENST00000497784.2:c.*1237G>T | ENSP00000420119.2:n.*1237G>T | |
| ENST00000642228.1:c.*865G>T | ENSP00000493678.1:n.*865G>T | |
| ENST00000642875.1:n.1259-3930G>T | ||
| ENST00000644120.1:n.2177G>T | ||
| ENST00000644650.1:c.883G>T | ||
| ENST00000644905.1:n.2669G>T | ||
| ENST00000644969.2:c.1907G>T MANE Plus Clinical | ENSP00000496776.1:p.Gly636Val | |
| ENST00000646730.1:c.*363G>T | ENSP00000494784.1:n.*363G>T | |
| ENST00000646891.1:c.1787G>T | ENSP00000493543.1:p.Gly596Val | |
| ENST00000647434.1:c.738-3930G>T | ENSP00000495132.1:n.738-3930G>T | |
| ENST00000288602.10:c.1787G>T | ENSP00000288602.6:p.Gly596Val | |
| ENST00000479537.5:c.71G>T | ENSP00000418033.1:p.Gly24Val | |
| ENST00000496384.6:c.610G>T | ||
| ENST00000497784.1:c.1822G>T | ENSP00000420119.1:n.1822G>T | |
| NM_004333.4:c.1787G>T , LRG_299t1:c.1787G>T | NP_004324.2:p.Gly596Val | |
| XM_005250045.1:c.1787G>T | XP_005250102.1:p.Gly596Val | |
| XM_005250046.1:c.1787G>T | XP_005250103.1:p.Gly596Val | |
| XM_011516529.1:c.1787G>T | XP_011514831.1:p.Gly596Val | |
| XM_011516530.1:c.1695-3930G>T | XP_011514832.1:n.1695-3930G>T | |
| XR_242190.1:n.1795G>T | ||
| XR_927520.1:n.1795G>T | ||
| XR_927521.1:n.1795G>T | ||
| XR_927522.1:n.1703-3930G>T | ||
| XR_927523.1:n.1703-3930G>T | ||
| NM_001354609.1:c.1787G>T | NP_001341538.1:p.Gly596Val | |
| NM_004333.5:c.1787G>T | NP_004324.2:p.Gly596Val | |
| NR_148928.1:n.2885G>T | ||
| XM_017012558.1:c.1907G>T | XP_016868047.1:p.Gly636Val | |
| XM_017012559.1:c.1907G>T | XP_016868048.1:p.Gly636Val | |
| XR_001744857.1:n.1915G>T | ||
| XR_001744858.1:n.1823-3930G>T | ||
| NM_001354609.2:c.1787G>T | NP_001341538.1:p.Gly596Val | |
| NM_001374244.1:c.1907G>T | NP_001361173.1:p.Gly636Val | |
| NM_001374258.1:c.1907G>T MANE Plus Clinical | NP_001361187.1:p.Gly636Val | |
| NM_004333.6:c.1787G>T MANE Select | NP_004324.2:p.Gly596Val | |
| NM_001378467.1:c.1796G>T | NP_001365396.1:p.Gly599Val | |
| NM_001378468.1:c.1787G>T | NP_001365397.1:p.Gly596Val | |
| NM_001378469.1:c.1721G>T | NP_001365398.1:p.Gly574Val | |
| NM_001378470.1:c.1685G>T | NP_001365399.1:p.Gly562Val | |
| NM_001378471.1:c.1676G>T | NP_001365400.1:p.Gly559Val | |
| NM_001378472.1:c.1631G>T | NP_001365401.1:p.Gly544Val | |
| NM_001378473.1:c.1631G>T | NP_001365402.1:p.Gly544Val | |
| NM_001378474.1:c.1787G>T | NP_001365403.1:p.Gly596Val | |
| NM_001378475.1:c.1523G>T | NP_001365404.1:p.Gly508Val |