Linked Data
ClinVar Variation Id:
374504
dbSNP Id:
rs202173526
gnomAD v2:
15-72638896-G-C
gnomAD v3:
15-72346555-G-C
gnomAD v4:
15-72346555-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346555G>C , CM000677.2:g.72346555G>C | GRCh38 |
| NC_000015.9:g.72638896G>C , CM000677.1:g.72638896G>C | GRCh37 |
| NC_000015.8:g.70425950G>C | NCBI36 |
| NG_009017.1:g.34625C>G | |
| NG_009017.2:g.34625C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-230C>G | ENSP00000457521.2:n.1074-230C>G | |
| ENST00000682061.1:c.*964C>G | ENSP00000508316.1:n.*964C>G | |
| ENST00000682064.1:n.644C>G | ||
| ENST00000682177.1:c.1345C>G | ENSP00000507409.1:n.1345C>G | |
| ENST00000682235.1:n.641C>G | ||
| ENST00000682461.1:c.1408C>G | ENSP00000507308.1:n.1408C>G | |
| ENST00000682653.1:n.1622C>G | ||
| ENST00000682657.1:c.*484-230C>G | ENSP00000507753.1:n.*484-230C>G | |
| ENST00000682721.1:c.*1105C>G | ENSP00000507535.1:n.*1105C>G | |
| ENST00000682843.1:c.*972-230C>G | ENSP00000508173.1:n.*972-230C>G | |
| ENST00000683003.1:c.*484-230C>G | ENSP00000507576.1:n.*484-230C>G | |
| ENST00000683133.1:c.1486C>G | ENSP00000508108.1:n.1486C>G | |
| ENST00000683243.1:c.*484-230C>G | ENSP00000507042.1:n.*484-230C>G | |
| ENST00000683463.1:c.*107C>G | ENSP00000507986.1:n.*107C>G | |
| ENST00000683548.1:n.1105-230C>G | ||
| ENST00000683579.1:c.*1200C>G | ENSP00000506867.1:n.*1200C>G | |
| ENST00000683587.1:n.1178-230C>G | ||
| ENST00000683681.1:c.1302C>G | ENSP00000508110.1:p.Phe434Leu | |
| ENST00000683735.1:c.*1045-230C>G | ENSP00000508336.1:n.*1045-230C>G | |
| ENST00000683853.1:c.*107C>G | ENSP00000506834.1:n.*107C>G | |
| ENST00000683860.1:c.1302C>G | ENSP00000507179.1:p.Phe434Leu | |
| ENST00000683884.1:c.1147-230C>G | ENSP00000507004.1:n.1147-230C>G | |
| ENST00000684041.1:c.1302C>G | ENSP00000508382.1:p.Phe434Leu | |
| ENST00000684125.1:c.1074-230C>G | ENSP00000507320.1:n.1074-230C>G | |
| ENST00000684203.1:n.3067C>G | ||
| ENST00000684231.1:c.*712C>G | ENSP00000507748.1:n.*712C>G | |
| ENST00000684263.1:c.*242C>G | ENSP00000508369.1:n.*242C>G | |
| ENST00000684305.1:c.1750C>G | ENSP00000506819.1:n.1750C>G | |
| ENST00000684415.1:c.*169C>G | ENSP00000507227.1:n.*169C>G | |
| ENST00000684520.1:c.1302C>G | ENSP00000506826.1:p.Phe434Leu | |
| ENST00000684602.1:c.*968C>G | ENSP00000507996.1:n.*968C>G | |
| ENST00000684667.1:c.1633C>G | ENSP00000507003.1:n.1633C>G | |
| ENST00000268097.10:c.1302C>G MANE Select | ENSP00000268097.6:p.Phe434Leu | |
| ENST00000268097.9:c.1302C>G | ENSP00000268097.5:p.Phe434Leu | |
| ENST00000379915.4:c.413-230C>G | ENSP00000478716.1:n.413-230C>G | |
| ENST00000563762.5:c.826-230C>G | ENSP00000456346.1:n.826-230C>G | |
| ENST00000566304.5:c.1335C>G | ENSP00000455114.1:p.Phe445Leu | |
| ENST00000566672.5:c.*712C>G | ENSP00000457037.1:n.*712C>G | |
| ENST00000567027.5:c.946-230C>G | ||
| ENST00000567159.5:c.1302C>G | ENSP00000456489.1:p.Phe434Leu | |
| ENST00000567411.5:c.*823C>G | ENSP00000455545.1:n.*823C>G | |
| ENST00000568777.5:n.6551-230C>G | ||
| ENST00000569410.5:c.*107C>G | ENSP00000457125.1:n.*107C>G | |
| NM_000520.4:c.1302C>G | NP_000511.2:p.Phe434Leu | |
| NM_000520.5:c.1302C>G | NP_000511.2:p.Phe434Leu | |
| NM_001318825.1:c.1335C>G | NP_001305754.1:p.Phe445Leu | |
| NR_134869.1:n.1575-230C>G | ||
| NM_000520.6:c.1302C>G MANE Select | NP_000511.2:p.Phe434Leu | |
| NM_001318825.2:c.1335C>G | NP_001305754.1:p.Phe445Leu | |
| NR_134869.2:n.1116-230C>G | ||
| NR_134869.3:n.1116-230C>G |