Linked Data
ClinVar Variation Id:
100672
ClinVar RCV Id:
RCV000087072
dbSNP Id:
rs375113643
ExAC:
8:68007675 C / T
gnomAD v2:
8-68007675-C-T
gnomAD v3:
8-67095440-C-T
gnomAD v4:
8-67095440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67095440C>T , CM000670.2:g.67095440C>T | GRCh38 |
| NC_000008.10:g.68007675C>T , CM000670.1:g.68007675C>T | GRCh37 |
| NC_000008.9:g.68170229C>T | NCBI36 |
| NG_034100.1:g.36073C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262210.11:c.739C>T | ENSP00000262210.6:p.Arg247Ter | |
| ENST00000674993.1:c.763C>T | ENSP00000502454.1:p.Arg255Ter | |
| ENST00000675306.2:c.550C>T | ENSP00000502421.1:p.Arg184Ter | |
| ENST00000675820.1:c.*422C>T | ENSP00000501959.1:n.*422C>T | |
| ENST00000675869.1:c.631C>T | ENSP00000502747.1:p.Arg211Ter | |
| ENST00000675955.1:c.550C>T | ENSP00000501676.1:p.Arg184Ter | |
| ENST00000676113.1:c.631C>T | ENSP00000501645.1:p.Arg211Ter | |
| ENST00000676317.1:c.658C>T | ENSP00000502047.1:p.Arg220Ter | |
| ENST00000676471.1:c.658C>T | ENSP00000503711.1:p.Arg220Ter | |
| ENST00000676567.1:c.550C>T | ENSP00000503427.1:p.Arg184Ter | |
| ENST00000676573.1:c.658C>T | ENSP00000504532.1:p.Arg220Ter | |
| ENST00000676605.1:c.781C>T | ENSP00000503605.1:p.Arg261Ter | |
| ENST00000676695.1:c.247C>T | ENSP00000503292.1:p.Arg83Ter | |
| ENST00000676697.1:n.1392C>T | ||
| ENST00000676847.1:c.652C>T | ENSP00000503336.1:p.Arg218Ter | |
| ENST00000676858.1:c.550C>T | ENSP00000502925.1:p.Arg184Ter | |
| ENST00000676882.1:c.658C>T | ENSP00000504342.1:p.Arg220Ter | |
| ENST00000677009.1:c.658C>T | ENSP00000503297.1:p.Arg220Ter | |
| ENST00000677070.1:c.247C>T | ENSP00000503014.1:p.Arg83Ter | |
| ENST00000677256.1:c.*392C>T | ENSP00000504102.1:n.*392C>T | |
| ENST00000677430.1:c.550C>T | ENSP00000504177.1:p.Arg184Ter | |
| ENST00000677455.1:n.699C>T | ||
| ENST00000677473.1:c.559C>T | ENSP00000503534.1:p.Arg187Ter | |
| ENST00000677592.1:c.739C>T | ENSP00000504516.1:p.Arg247Ter | |
| ENST00000677619.1:c.550C>T | ENSP00000504522.1:p.Arg184Ter | |
| ENST00000677836.1:c.247C>T | ENSP00000504345.1:p.Arg83Ter | |
| ENST00000677845.1:c.550C>T | ENSP00000503524.1:p.Arg184Ter | |
| ENST00000677855.1:c.247C>T | ENSP00000504757.1:p.Arg83Ter | |
| ENST00000678017.1:c.-225C>T | ENSP00000504394.1:n.-225C>T | |
| ENST00000678156.1:n.844C>T | ||
| ENST00000678204.1:c.*333C>T | ENSP00000504782.1:n.*333C>T | |
| ENST00000678216.1:n.265C>T | ||
| ENST00000678318.1:c.739C>T | ENSP00000503690.1:p.Arg247Ter | |
| ENST00000678362.1:c.550C>T | ENSP00000504317.1:p.Arg184Ter | |
| ENST00000678444.1:c.247C>T | ENSP00000503879.1:p.Arg83Ter | |
| ENST00000678542.1:c.739C>T | ENSP00000503878.1:p.Arg247Ter | |
| ENST00000678553.1:c.658C>T | ENSP00000503747.1:p.Arg220Ter | |
| ENST00000678616.1:c.631C>T MANE Select | ENSP00000504733.1:p.Arg211Ter | |
| ENST00000678645.1:c.550C>T | ENSP00000504031.1:p.Arg184Ter | |
| ENST00000678728.1:c.658C>T | ENSP00000504830.1:p.Arg220Ter | |
| ENST00000678744.1:c.*230C>T | ENSP00000503495.1:n.*230C>T | |
| ENST00000678747.1:c.631C>T | ENSP00000503390.1:p.Arg211Ter | |
| ENST00000678821.1:n.1944C>T | ||
| ENST00000678927.1:n.812C>T | ||
| ENST00000679112.1:c.*572C>T | ENSP00000503739.1:n.*572C>T | |
| ENST00000679226.1:c.550C>T | ENSP00000503601.1:p.Arg184Ter | |
| ENST00000262210.9:c.658C>T | ENSP00000262210.5:p.Arg220Ter | |
| ENST00000519163.6:c.655C>T | ENSP00000428694.1:p.Arg219Ter | |
| ENST00000519668.1:c.-225C>T | ENSP00000430092.1:n.-225C>T | |
| NM_001291339.1:c.-225C>T | NP_001278268.1:n.-225C>T | |
| NM_024790.6:c.658C>T | NP_079066.5:p.Arg220Ter | |
| XM_005251305.3:c.901C>T | XP_005251362.2:p.Arg301Ter | |
| XM_006716474.2:c.901C>T | XP_006716537.2:p.Arg301Ter | |
| XM_006716477.2:c.901C>T | XP_006716540.2:p.Arg301Ter | |
| XM_011517598.1:c.901C>T | XP_011515900.1:p.Arg301Ter | |
| XM_011517599.1:c.877C>T | XP_011515901.1:p.Arg293Ter | |
| XM_011517600.1:c.877C>T | XP_011515902.1:p.Arg293Ter | |
| XM_011517601.1:c.796C>T | XP_011515903.1:p.Arg266Ter | |
| XM_011517602.1:c.796C>T | XP_011515904.1:p.Arg266Ter | |
| XM_011517603.1:c.655C>T | XP_011515905.1:p.Arg219Ter | |
| XM_011517604.1:c.655C>T | XP_011515906.1:p.Arg219Ter | |
| XM_011517605.1:c.655C>T | XP_011515907.1:p.Arg219Ter | |
| XM_011517606.1:c.631C>T | XP_011515908.1:p.Arg211Ter | |
| XM_011517607.1:c.631C>T | XP_011515909.1:p.Arg211Ter | |
| XM_011517608.1:c.550C>T | XP_011515910.1:p.Arg184Ter | |
| XM_011517609.1:c.-225C>T | XP_011515911.1:n.-225C>T | |
| NM_001363131.1:c.550C>T | NP_001350060.1:p.Arg184Ter | |
| NM_001363132.1:c.631C>T | NP_001350061.1:p.Arg211Ter | |
| NM_001363133.1:c.550C>T | NP_001350062.1:p.Arg184Ter | |
| NM_001364869.1:c.739C>T | NP_001351798.1:p.Arg247Ter | |
| NM_001364870.1:c.658C>T | NP_001351799.1:p.Arg220Ter | |
| XM_005251305.4:c.901C>T | XP_005251362.2:p.Arg301Ter | |
| XM_006716474.3:c.901C>T | XP_006716537.2:p.Arg301Ter | |
| XM_006716477.3:c.901C>T | XP_006716540.2:p.Arg301Ter | |
| XM_011517598.2:c.901C>T | XP_011515900.1:p.Arg301Ter | |
| XM_011517599.2:c.877C>T | XP_011515901.1:p.Arg293Ter | |
| XM_011517600.2:c.877C>T | XP_011515902.1:p.Arg293Ter | |
| XM_011517601.2:c.796C>T | XP_011515903.1:p.Arg266Ter | |
| XM_011517602.2:c.796C>T | XP_011515904.1:p.Arg266Ter | |
| XM_011517603.2:c.655C>T | XP_011515905.1:p.Arg219Ter | |
| XM_011517607.2:c.631C>T | XP_011515909.1:p.Arg211Ter | |
| XM_011517609.2:c.-225C>T | XP_011515911.1:n.-225C>T | |
| XM_017013847.2:c.901C>T | XP_016869336.1:p.Arg301Ter | |
| XM_017013848.2:c.877C>T | XP_016869337.1:p.Arg293Ter | |
| XM_017013849.2:c.796C>T | XP_016869338.1:p.Arg266Ter | |
| XM_017013850.2:c.796C>T | XP_016869339.1:p.Arg266Ter | |
| XM_017013851.2:c.550C>T | XP_016869340.1:p.Arg184Ter | |
| XM_017013852.2:c.796C>T | XP_016869341.1:p.Arg266Ter | |
| XM_017013854.2:c.877C>T | XP_016869343.1:p.Arg293Ter | |
| XM_017013855.2:c.796C>T | XP_016869344.1:p.Arg266Ter | |
| XM_017013856.2:c.550C>T | XP_016869345.1:p.Arg184Ter | |
| XM_017013858.2:c.-574C>T | XP_016869347.1:n.-574C>T | |
| XM_024447278.1:c.631C>T | XP_024303046.1:p.Arg211Ter | |
| XM_024447279.1:c.550C>T | XP_024303047.1:p.Arg184Ter | |
| XM_024447281.1:c.550C>T | XP_024303049.1:p.Arg184Ter | |
| XM_024447282.1:c.631C>T | XP_024303050.1:p.Arg211Ter | |
| XM_024447283.1:c.-225C>T | XP_024303051.1:n.-225C>T | |
| XM_024447284.1:c.-673C>T | XP_024303052.1:n.-673C>T | |
| NM_001363131.2:c.550C>T | NP_001350060.1:p.Arg184Ter | |
| NM_001363132.2:c.631C>T | NP_001350061.1:p.Arg211Ter | |
| NM_001363133.2:c.550C>T | NP_001350062.1:p.Arg184Ter | |
| NM_001291339.2:c.-225C>T | NP_001278268.1:n.-225C>T | |
| NM_001382391.1:c.631C>T MANE Select | NP_001369320.1:p.Arg211Ter |