Linked Data
ClinVar Variation Id:
375947
ClinVar RCV Id:
RCV000417560
RCV000420810
RCV000428250
RCV000433859
RCV000423137
RCV000441525
RCV000428467
RCV000430625
RCV000435646
RCV000441346
dbSNP Id:
rs397516896
COSMIC:
COSM144576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753355C>G , CM000669.2:g.140753355C>G | GRCh38 |
| NC_000007.13:g.140453155C>G , CM000669.1:g.140453155C>G | GRCh37 |
| NC_000007.12:g.140099624C>G | NCBI36 |
| NG_007873.3:g.176410G>C , LRG_299:g.176410G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1780G>C MANE Select | ENSP00000493543.1:p.Asp594His | |
| ENST00000288602.11:c.1900G>C | ENSP00000288602.7:p.Asp634His | |
| ENST00000479537.6:c.450G>C | ||
| ENST00000496384.7:c.1780G>C | ENSP00000419060.2:p.Asp594His | |
| ENST00000497784.2:c.*1230G>C | ENSP00000420119.2:n.*1230G>C | |
| ENST00000642228.1:c.*858G>C | ENSP00000493678.1:n.*858G>C | |
| ENST00000642875.1:n.1259-3937G>C | ||
| ENST00000644120.1:n.2170G>C | ||
| ENST00000644650.1:c.876G>C | ||
| ENST00000644905.1:n.2662G>C | ||
| ENST00000644969.2:c.1900G>C MANE Plus Clinical | ENSP00000496776.1:p.Asp634His | |
| ENST00000646730.1:c.*356G>C | ENSP00000494784.1:n.*356G>C | |
| ENST00000646891.1:c.1780G>C | ENSP00000493543.1:p.Asp594His | |
| ENST00000647434.1:c.738-3937G>C | ENSP00000495132.1:n.738-3937G>C | |
| ENST00000288602.10:c.1780G>C | ENSP00000288602.6:p.Asp594His | |
| ENST00000479537.5:c.64G>C | ENSP00000418033.1:p.Asp22His | |
| ENST00000496384.6:c.603G>C | ||
| ENST00000497784.1:c.1815G>C | ENSP00000420119.1:n.1815G>C | |
| NM_004333.4:c.1780G>C , LRG_299t1:c.1780G>C | NP_004324.2:p.Asp594His | |
| XM_005250045.1:c.1780G>C | XP_005250102.1:p.Asp594His | |
| XM_005250046.1:c.1780G>C | XP_005250103.1:p.Asp594His | |
| XM_011516529.1:c.1780G>C | XP_011514831.1:p.Asp594His | |
| XM_011516530.1:c.1695-3937G>C | XP_011514832.1:n.1695-3937G>C | |
| XR_242190.1:n.1788G>C | ||
| XR_927520.1:n.1788G>C | ||
| XR_927521.1:n.1788G>C | ||
| XR_927522.1:n.1703-3937G>C | ||
| XR_927523.1:n.1703-3937G>C | ||
| NM_001354609.1:c.1780G>C | NP_001341538.1:p.Asp594His | |
| NM_004333.5:c.1780G>C | NP_004324.2:p.Asp594His | |
| NR_148928.1:n.2878G>C | ||
| XM_017012558.1:c.1900G>C | XP_016868047.1:p.Asp634His | |
| XM_017012559.1:c.1900G>C | XP_016868048.1:p.Asp634His | |
| XR_001744857.1:n.1908G>C | ||
| XR_001744858.1:n.1823-3937G>C | ||
| NM_001354609.2:c.1780G>C | NP_001341538.1:p.Asp594His | |
| NM_001374244.1:c.1900G>C | NP_001361173.1:p.Asp634His | |
| NM_001374258.1:c.1900G>C MANE Plus Clinical | NP_001361187.1:p.Asp634His | |
| NM_004333.6:c.1780G>C MANE Select | NP_004324.2:p.Asp594His | |
| NM_001378467.1:c.1789G>C | NP_001365396.1:p.Asp597His | |
| NM_001378468.1:c.1780G>C | NP_001365397.1:p.Asp594His | |
| NM_001378469.1:c.1714G>C | NP_001365398.1:p.Asp572His | |
| NM_001378470.1:c.1678G>C | NP_001365399.1:p.Asp560His | |
| NM_001378471.1:c.1669G>C | NP_001365400.1:p.Asp557His | |
| NM_001378472.1:c.1624G>C | NP_001365401.1:p.Asp542His | |
| NM_001378473.1:c.1624G>C | NP_001365402.1:p.Asp542His | |
| NM_001378474.1:c.1780G>C | NP_001365403.1:p.Asp594His | |
| NM_001378475.1:c.1516G>C | NP_001365404.1:p.Asp506His |