Linked Data
ClinVar Variation Id:
284406
dbSNP Id:
rs193186244
ExAC:
10:55568454 A / G
gnomAD v2:
10-55568454-A-G
gnomAD v3:
10-53808694-A-G
gnomAD v4:
10-53808694-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53808694A>G , CM000672.2:g.53808694A>G | GRCh38 |
| NC_000010.10:g.55568454A>G , CM000672.1:g.55568454A>G | GRCh37 |
| NC_000010.9:g.55238460A>G | NCBI36 |
| NG_009191.2:g.997598T>C | |
| NG_009191.3:g.1825489T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.5371T>C | ENSP00000482794.1:p.Ter1791Arg | |
| ENST00000395445.6:c.5350T>C | ENSP00000378832.2:p.Ter1784Arg | |
| ENST00000613657.5:c.5371T>C | ENSP00000482794.1:p.Ter1791Arg | |
| ENST00000642496.1:c.3531-1564T>C | ||
| ENST00000644397.2:c.4672-1564T>C MANE Select | ENSP00000495195.1:n.4672-1564T>C | |
| ENST00000373965.6:c.4483-1564T>C | ENSP00000363076.3:n.4483-1564T>C | |
| ENST00000395438.5:c.*786T>C | ENSP00000378826.2:n.*786T>C | |
| ENST00000395440.5:c.2158T>C | ENSP00000378827.1:p.Ter720Arg | |
| ENST00000395442.5:c.1951T>C | ENSP00000378829.1:p.Ter651Arg | |
| ENST00000395445.5:c.5350T>C | ENSP00000378832.2:p.Ter1784Arg | |
| ENST00000395446.5:c.2944T>C | ENSP00000378833.1:p.Ter982Arg | |
| ENST00000409834.5:c.*786T>C | ENSP00000386693.1:n.*786T>C | |
| ENST00000414367.5:c.*1409T>C | ENSP00000412531.1:n.*1409T>C | |
| ENST00000414778.5:c.4480-1564T>C | ENSP00000410304.2:n.4480-1564T>C | |
| ENST00000476074.5:n.610-1564T>C | ||
| ENST00000495484.5:c.700-1564T>C | ENSP00000480780.1:n.700-1564T>C | |
| ENST00000612394.4:c.5368T>C | ENSP00000482921.1:p.Ter1790Arg | |
| ENST00000613657.4:c.5371T>C | ENSP00000482794.1:p.Ter1791Arg | |
| ENST00000614895.4:c.4495-1564T>C | ENSP00000478512.1:n.4495-1564T>C | |
| ENST00000615043.1:c.971T>C | ||
| ENST00000616114.4:c.4477-1564T>C | ENSP00000483745.1:n.4477-1564T>C | |
| ENST00000617271.4:c.*786T>C | ENSP00000478076.1:n.*786T>C | |
| ENST00000618301.4:c.832-1564T>C | ENSP00000482780.1:n.832-1564T>C | |
| ENST00000621708.4:c.4498-1564T>C | ENSP00000484454.1:n.4498-1564T>C | |
| NM_001142769.1:c.5371T>C | NP_001136241.1:p.Ter1791Arg | |
| NM_001142770.1:c.*786T>C | NP_001136242.1:n.*786T>C | |
| NM_001142771.1:c.4498-1564T>C | NP_001136243.1:n.4498-1564T>C | |
| NM_001142772.1:c.4483-1564T>C | NP_001136244.1:n.4483-1564T>C | |
| NM_001142769.2:c.5371T>C | NP_001136241.1:p.Ter1791Arg | |
| NM_001142770.2:c.*786T>C | NP_001136242.1:n.*786T>C | |
| NM_001354411.1:c.5350T>C | NP_001341340.1:p.Ter1784Arg | |
| NM_001354420.1:c.4477-1564T>C | NP_001341349.1:n.4477-1564T>C | |
| NM_001354429.1:c.4606-1564T>C | NP_001341358.1:n.4606-1564T>C | |
| XM_017016573.2:c.5350T>C | XP_016872062.1:p.Ter1784Arg | |
| XR_001747192.2:n.10964-1564T>C | ||
| XR_001747193.2:n.10955-1564T>C | ||
| NM_001142769.3:c.5371T>C | NP_001136241.1:p.Ter1791Arg | |
| NM_001142770.3:c.*786T>C | NP_001136242.1:n.*786T>C | |
| NM_001142771.2:c.4498-1564T>C | NP_001136243.1:n.4498-1564T>C | |
| NM_001142772.2:c.4483-1564T>C | NP_001136244.1:n.4483-1564T>C | |
| NM_001354411.2:c.5350T>C | NP_001341340.1:p.Ter1784Arg | |
| NM_001354420.2:c.4477-1564T>C | NP_001341349.1:n.4477-1564T>C | |
| NM_001354429.2:c.4606-1564T>C | NP_001341358.1:n.4606-1564T>C | |
| NM_001384140.1:c.4672-1564T>C MANE Select | NP_001371069.1:n.4672-1564T>C |