Linked Data
ClinVar Variation Id:
44813
ClinVar RCV Id:
RCV000037931
RCV000417722
RCV000425110
RCV000432782
RCV000432575
RCV000440132
RCV000443573
RCV000422928
RCV000425325
RCV000434944
RCV000444338
RCV002291550
dbSNP Id:
rs397516896
COSMIC:
COSM27639
CIViC:
CA135095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753355C>T , CM000669.2:g.140753355C>T | GRCh38 |
| NC_000007.13:g.140453155C>T , CM000669.1:g.140453155C>T | GRCh37 |
| NC_000007.12:g.140099624C>T | NCBI36 |
| NG_007873.3:g.176410G>A , LRG_299:g.176410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1780G>A MANE Select | ENSP00000493543.1:p.Asp594Asn | |
| ENST00000288602.11:c.1900G>A | ENSP00000288602.7:p.Asp634Asn | |
| ENST00000479537.6:c.450G>A | ||
| ENST00000496384.7:c.1780G>A | ENSP00000419060.2:p.Asp594Asn | |
| ENST00000497784.2:c.*1230G>A | ENSP00000420119.2:n.*1230G>A | |
| ENST00000642228.1:c.*858G>A | ENSP00000493678.1:n.*858G>A | |
| ENST00000642875.1:n.1259-3937G>A | ||
| ENST00000644120.1:n.2170G>A | ||
| ENST00000644650.1:c.876G>A | ||
| ENST00000644905.1:n.2662G>A | ||
| ENST00000644969.2:c.1900G>A MANE Plus Clinical | ENSP00000496776.1:p.Asp634Asn | |
| ENST00000646730.1:c.*356G>A | ENSP00000494784.1:n.*356G>A | |
| ENST00000646891.1:c.1780G>A | ENSP00000493543.1:p.Asp594Asn | |
| ENST00000647434.1:c.738-3937G>A | ENSP00000495132.1:n.738-3937G>A | |
| ENST00000288602.10:c.1780G>A | ENSP00000288602.6:p.Asp594Asn | |
| ENST00000479537.5:c.64G>A | ENSP00000418033.1:p.Asp22Asn | |
| ENST00000496384.6:c.603G>A | ||
| ENST00000497784.1:c.1815G>A | ENSP00000420119.1:n.1815G>A | |
| NM_004333.4:c.1780G>A , LRG_299t1:c.1780G>A | NP_004324.2:p.Asp594Asn | |
| XM_005250045.1:c.1780G>A | XP_005250102.1:p.Asp594Asn | |
| XM_005250046.1:c.1780G>A | XP_005250103.1:p.Asp594Asn | |
| XM_011516529.1:c.1780G>A | XP_011514831.1:p.Asp594Asn | |
| XM_011516530.1:c.1695-3937G>A | XP_011514832.1:n.1695-3937G>A | |
| XR_242190.1:n.1788G>A | ||
| XR_927520.1:n.1788G>A | ||
| XR_927521.1:n.1788G>A | ||
| XR_927522.1:n.1703-3937G>A | ||
| XR_927523.1:n.1703-3937G>A | ||
| NM_001354609.1:c.1780G>A | NP_001341538.1:p.Asp594Asn | |
| NM_004333.5:c.1780G>A | NP_004324.2:p.Asp594Asn | |
| NR_148928.1:n.2878G>A | ||
| XM_017012558.1:c.1900G>A | XP_016868047.1:p.Asp634Asn | |
| XM_017012559.1:c.1900G>A | XP_016868048.1:p.Asp634Asn | |
| XR_001744857.1:n.1908G>A | ||
| XR_001744858.1:n.1823-3937G>A | ||
| NM_001354609.2:c.1780G>A | NP_001341538.1:p.Asp594Asn | |
| NM_001374244.1:c.1900G>A | NP_001361173.1:p.Asp634Asn | |
| NM_001374258.1:c.1900G>A MANE Plus Clinical | NP_001361187.1:p.Asp634Asn | |
| NM_004333.6:c.1780G>A MANE Select | NP_004324.2:p.Asp594Asn | |
| NM_001378467.1:c.1789G>A | NP_001365396.1:p.Asp597Asn | |
| NM_001378468.1:c.1780G>A | NP_001365397.1:p.Asp594Asn | |
| NM_001378469.1:c.1714G>A | NP_001365398.1:p.Asp572Asn | |
| NM_001378470.1:c.1678G>A | NP_001365399.1:p.Asp560Asn | |
| NM_001378471.1:c.1669G>A | NP_001365400.1:p.Asp557Asn | |
| NM_001378472.1:c.1624G>A | NP_001365401.1:p.Asp542Asn | |
| NM_001378473.1:c.1624G>A | NP_001365402.1:p.Asp542Asn | |
| NM_001378474.1:c.1780G>A | NP_001365403.1:p.Asp594Asn | |
| NM_001378475.1:c.1516G>A | NP_001365404.1:p.Asp506Asn |