Linked Data
ClinVar Variation Id:
384856
dbSNP Id:
rs752326108
ExAC:
8:68026070 G / C
gnomAD v2:
8-68026070-G-C
gnomAD v3:
8-67113835-G-C
gnomAD v4:
8-67113835-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67113835G>C , CM000670.2:g.67113835G>C | GRCh38 |
| NC_000008.10:g.68026070G>C , CM000670.1:g.68026070G>C | GRCh37 |
| NC_000008.9:g.68188624G>C | NCBI36 |
| NG_034100.1:g.54468G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.1326G>C | ENSP00000262210.6:p.Ala442= | |
| ENST00000674993.1:c.1350G>C | ENSP00000502454.1:p.Ala450= | |
| ENST00000675306.2:c.1137G>C | ENSP00000502421.1:p.Ala379= | |
| ENST00000675820.1:c.*1009G>C | ENSP00000501959.1:n.*1009G>C | |
| ENST00000675869.1:c.1218G>C | ENSP00000502747.1:p.Ala406= | |
| ENST00000675955.1:c.1137G>C | ENSP00000501676.1:p.Ala379= | |
| ENST00000676113.1:c.1218G>C | ENSP00000501645.1:p.Ala406= | |
| ENST00000676317.1:c.1245G>C | ENSP00000502047.1:p.Ala415= | |
| ENST00000676471.1:c.1146G>C | ENSP00000503711.1:p.Ala382= | |
| ENST00000676534.1:n.4144G>C | ||
| ENST00000676567.1:c.*37G>C | ENSP00000503427.1:n.*37G>C | |
| ENST00000676573.1:c.951-4413G>C | ENSP00000504532.1:n.951-4413G>C | |
| ENST00000676605.1:c.1368G>C | ENSP00000503605.1:p.Ala456= | |
| ENST00000676695.1:c.834G>C | ENSP00000503292.1:p.Ala278= | |
| ENST00000676697.1:n.1979G>C | ||
| ENST00000676847.1:c.1239G>C | ENSP00000503336.1:p.Ala413= | |
| ENST00000676858.1:c.1131G>C | ENSP00000502925.1:p.Ala377= | |
| ENST00000676882.1:c.1146G>C | ENSP00000504342.1:p.Ala382= | |
| ENST00000677009.1:c.1245G>C | ENSP00000503297.1:p.Ala415= | |
| ENST00000677052.1:n.758G>C | ||
| ENST00000677070.1:c.927G>C | ENSP00000503014.1:p.Ala309= | |
| ENST00000677256.1:c.*979G>C | ENSP00000504102.1:n.*979G>C | |
| ENST00000677430.1:c.1137G>C | ENSP00000504177.1:p.Ala379= | |
| ENST00000677455.1:n.1286G>C | ||
| ENST00000677473.1:c.1146G>C | ENSP00000503534.1:p.Ala382= | |
| ENST00000677592.1:c.1227G>C | ENSP00000504516.1:p.Ala409= | |
| ENST00000677619.1:c.843-4413G>C | ENSP00000504522.1:n.843-4413G>C | |
| ENST00000677836.1:c.834G>C | ENSP00000504345.1:p.Ala278= | |
| ENST00000677845.1:c.843-4413G>C | ENSP00000503524.1:n.843-4413G>C | |
| ENST00000677855.1:c.834G>C | ENSP00000504757.1:p.Ala278= | |
| ENST00000678017.1:c.264G>C | ENSP00000504394.1:p.Ala88= | |
| ENST00000678138.1:n.1504G>C | ||
| ENST00000678156.1:n.1137-4413G>C | ||
| ENST00000678204.1:c.*920G>C | ENSP00000504782.1:n.*920G>C | |
| ENST00000678216.1:n.852G>C | ||
| ENST00000678318.1:c.1032-4413G>C | ENSP00000503690.1:n.1032-4413G>C | |
| ENST00000678362.1:c.*37G>C | ENSP00000504317.1:n.*37G>C | |
| ENST00000678444.1:c.834G>C | ENSP00000503879.1:p.Ala278= | |
| ENST00000678542.1:c.1326G>C | ENSP00000503878.1:p.Ala442= | |
| ENST00000678553.1:c.1146G>C | ENSP00000503747.1:p.Ala382= | |
| ENST00000678616.1:c.1218G>C MANE Select | ENSP00000504733.1:p.Ala406= | |
| ENST00000678645.1:c.1137G>C | ENSP00000504031.1:p.Ala379= | |
| ENST00000678728.1:c.*37G>C | ENSP00000504830.1:n.*37G>C | |
| ENST00000678744.1:c.*817G>C | ENSP00000503495.1:n.*817G>C | |
| ENST00000678747.1:c.924-4413G>C | ENSP00000503390.1:n.924-4413G>C | |
| ENST00000678807.1:n.443G>C | ||
| ENST00000678821.1:n.2531G>C | ||
| ENST00000679042.1:n.18G>C | ||
| ENST00000679112.1:c.*1159G>C | ENSP00000503739.1:n.*1159G>C | |
| ENST00000679226.1:c.1137G>C | ENSP00000503601.1:p.Ala379= | |
| ENST00000679274.1:n.184G>C | ||
| ENST00000262210.9:c.1245G>C | ENSP00000262210.5:p.Ala415= | |
| ENST00000519163.6:c.*37G>C | ENSP00000428694.1:n.*37G>C | |
| ENST00000519668.1:c.363G>C | ENSP00000430092.1:p.Ala121= | |
| NM_001291339.1:c.363G>C | NP_001278268.1:p.Ala121= | |
| NM_024790.6:c.1245G>C | NP_079066.5:p.Ala415= | |
| XM_005251305.3:c.1488G>C | XP_005251362.2:p.Ala496= | |
| XM_006716474.2:c.1488G>C | XP_006716537.2:p.Ala496= | |
| XM_006716477.2:c.1194-4413G>C | XP_006716540.2:n.1194-4413G>C | |
| XM_011517598.1:c.1488G>C | XP_011515900.1:p.Ala496= | |
| XM_011517599.1:c.1464G>C | XP_011515901.1:p.Ala488= | |
| XM_011517600.1:c.1464G>C | XP_011515902.1:p.Ala488= | |
| XM_011517601.1:c.1383G>C | XP_011515903.1:p.Ala461= | |
| XM_011517602.1:c.1383G>C | XP_011515904.1:p.Ala461= | |
| XM_011517603.1:c.1242G>C | XP_011515905.1:p.Ala414= | |
| XM_011517604.1:c.1242G>C | XP_011515906.1:p.Ala414= | |
| XM_011517605.1:c.1242G>C | XP_011515907.1:p.Ala414= | |
| XM_011517606.1:c.1218G>C | XP_011515908.1:p.Ala406= | |
| XM_011517607.1:c.1218G>C | XP_011515909.1:p.Ala406= | |
| XM_011517608.1:c.1137G>C | XP_011515910.1:p.Ala379= | |
| XM_011517609.1:c.363G>C | XP_011515911.1:p.Ala121= | |
| NM_001363131.1:c.1137G>C | NP_001350060.1:p.Ala379= | |
| NM_001363132.1:c.1218G>C | NP_001350061.1:p.Ala406= | |
| NM_001363133.1:c.1137G>C | NP_001350062.1:p.Ala379= | |
| NM_001364869.1:c.1326G>C | NP_001351798.1:p.Ala442= | |
| NM_001364870.1:c.1146G>C | NP_001351799.1:p.Ala382= | |
| XM_005251305.4:c.1488G>C | XP_005251362.2:p.Ala496= | |
| XM_006716474.3:c.1488G>C | XP_006716537.2:p.Ala496= | |
| XM_006716477.3:c.1194-4413G>C | XP_006716540.2:n.1194-4413G>C | |
| XM_011517598.2:c.1488G>C | XP_011515900.1:p.Ala496= | |
| XM_011517599.2:c.1464G>C | XP_011515901.1:p.Ala488= | |
| XM_011517600.2:c.1464G>C | XP_011515902.1:p.Ala488= | |
| XM_011517601.2:c.1383G>C | XP_011515903.1:p.Ala461= | |
| XM_011517602.2:c.1383G>C | XP_011515904.1:p.Ala461= | |
| XM_011517603.2:c.1242G>C | XP_011515905.1:p.Ala414= | |
| XM_011517607.2:c.1218G>C | XP_011515909.1:p.Ala406= | |
| XM_011517609.2:c.363G>C | XP_011515911.1:p.Ala121= | |
| XM_017013847.2:c.1389G>C | XP_016869336.1:p.Ala463= | |
| XM_017013848.2:c.1365G>C | XP_016869337.1:p.Ala455= | |
| XM_017013849.2:c.1284G>C | XP_016869338.1:p.Ala428= | |
| XM_017013850.2:c.1284G>C | XP_016869339.1:p.Ala428= | |
| XM_017013851.2:c.1137G>C | XP_016869340.1:p.Ala379= | |
| XM_017013852.2:c.1284G>C | XP_016869341.1:p.Ala428= | |
| XM_017013854.2:c.1170-4413G>C | XP_016869343.1:n.1170-4413G>C | |
| XM_017013855.2:c.1089-4413G>C | XP_016869344.1:n.1089-4413G>C | |
| XM_017013856.2:c.843-4413G>C | XP_016869345.1:n.843-4413G>C | |
| XM_017013858.2:c.-76G>C | XP_016869347.1:n.-76G>C | |
| XM_024447278.1:c.1218G>C | XP_024303046.1:p.Ala406= | |
| XM_024447279.1:c.1137G>C | XP_024303047.1:p.Ala379= | |
| XM_024447281.1:c.1137G>C | XP_024303049.1:p.Ala379= | |
| XM_024447282.1:c.924-4413G>C | XP_024303050.1:n.924-4413G>C | |
| XM_024447283.1:c.363G>C | XP_024303051.1:p.Ala121= | |
| XM_024447284.1:c.-76G>C | XP_024303052.1:n.-76G>C | |
| NM_001363131.2:c.1137G>C | NP_001350060.1:p.Ala379= | |
| NM_001363132.2:c.1218G>C | NP_001350061.1:p.Ala406= | |
| NM_001363133.2:c.1137G>C | NP_001350062.1:p.Ala379= | |
| NM_001291339.2:c.363G>C | NP_001278268.1:p.Ala121= | |
| NM_001382391.1:c.1218G>C MANE Select | NP_001369320.1:p.Ala406= |