Linked Data
ClinVar Variation Id:
217648
ClinVar RCV Id:
RCV000201785
dbSNP Id:
rs771203308
ExAC:
8:68070715 C / T
gnomAD v2:
8-68070715-C-T
gnomAD v3:
8-67158480-C-T
gnomAD v4:
8-67158480-C-T
COSMIC:
COSM5949387
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67158480C>T , CM000670.2:g.67158480C>T | GRCh38 |
| NC_000008.10:g.68070715C>T , CM000670.1:g.68070715C>T | GRCh37 |
| NC_000008.9:g.68233269C>T | NCBI36 |
| NG_034100.1:g.99113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2341C>T | ENSP00000262210.6:p.Arg781Ter | |
| ENST00000521324.3:c.147C>T | ||
| ENST00000674993.1:c.2365C>T | ENSP00000502454.1:p.Arg789Ter | |
| ENST00000675306.2:c.1999C>T | ENSP00000502421.1:p.Arg667Ter | |
| ENST00000675869.1:c.2080C>T | ENSP00000502747.1:p.Arg694Ter | |
| ENST00000675955.1:c.2194C>T | ENSP00000501676.1:p.Arg732Ter | |
| ENST00000675990.1:n.3604C>T | ||
| ENST00000676113.1:c.2233C>T | ENSP00000501645.1:p.Arg745Ter | |
| ENST00000676317.1:c.2260C>T | ENSP00000502047.1:p.Arg754Ter | |
| ENST00000676471.1:c.2008C>T | ENSP00000503711.1:p.Arg670Ter | |
| ENST00000676534.1:n.5201C>T | ||
| ENST00000676567.1:c.*899C>T | ENSP00000503427.1:n.*899C>T | |
| ENST00000676573.1:c.1576C>T | ENSP00000504532.1:p.Arg526Ter | |
| ENST00000676605.1:c.2383C>T | ENSP00000503605.1:p.Arg795Ter | |
| ENST00000676695.1:c.2201C>T | ENSP00000503292.1:n.2201C>T | |
| ENST00000676697.1:n.3136C>T | ||
| ENST00000676804.1:c.578C>T | ||
| ENST00000676847.1:c.2254C>T | ENSP00000503336.1:p.Arg752Ter | |
| ENST00000676858.1:c.*236C>T | ENSP00000502925.1:n.*236C>T | |
| ENST00000676882.1:c.2161C>T | ENSP00000504342.1:p.Arg721Ter | |
| ENST00000676968.1:c.147C>T | ||
| ENST00000677009.1:c.2260C>T | ENSP00000503297.1:p.Arg754Ter | |
| ENST00000677052.1:n.1773C>T | ||
| ENST00000677131.1:c.147C>T | ||
| ENST00000677256.1:c.*1994C>T | ENSP00000504102.1:n.*1994C>T | |
| ENST00000677430.1:c.2194C>T | ENSP00000504177.1:p.Arg732Ter | |
| ENST00000677455.1:n.2148C>T | ||
| ENST00000677473.1:c.*291C>T | ENSP00000503534.1:n.*291C>T | |
| ENST00000677592.1:c.2242C>T | ENSP00000504516.1:p.Arg748Ter | |
| ENST00000677619.1:c.1621C>T | ENSP00000504522.1:p.Arg541Ter | |
| ENST00000677697.1:n.243C>T | ||
| ENST00000677845.1:c.*646C>T | ENSP00000503524.1:n.*646C>T | |
| ENST00000677855.1:c.1583C>T | ENSP00000504757.1:n.1583C>T | |
| ENST00000677964.1:c.147C>T | ||
| ENST00000678017.1:c.1126C>T | ENSP00000504394.1:p.Arg376Ter | |
| ENST00000678138.1:n.2438C>T | ||
| ENST00000678156.1:n.1915C>T | ||
| ENST00000678318.1:c.1810C>T | ENSP00000503690.1:p.Arg604Ter | |
| ENST00000678362.1:c.*1052C>T | ENSP00000504317.1:n.*1052C>T | |
| ENST00000678542.1:c.2383C>T | ENSP00000503878.1:p.Arg795Ter | |
| ENST00000678616.1:c.2275C>T MANE Select | ENSP00000504733.1:p.Arg759Ter | |
| ENST00000678635.1:n.770C>T | ||
| ENST00000678645.1:c.2152C>T | ENSP00000504031.1:p.Arg718Ter | |
| ENST00000678723.1:c.147C>T | ||
| ENST00000678747.1:c.1702C>T | ENSP00000503390.1:p.Arg568Ter | |
| ENST00000678807.1:n.1310C>T | ||
| ENST00000678895.1:c.147C>T | ||
| ENST00000679042.1:n.3100C>T | ||
| ENST00000679112.1:c.*2174C>T | ENSP00000503739.1:n.*2174C>T | |
| ENST00000679226.1:c.1999C>T | ENSP00000503601.1:p.Arg667Ter | |
| ENST00000679274.1:n.1199C>T | ||
| ENST00000679295.1:n.1246C>T | ||
| ENST00000262210.9:c.2260C>T | ENSP00000262210.5:p.Arg754Ter | |
| ENST00000519163.6:c.*2526C>T | ENSP00000428694.1:n.*2526C>T | |
| ENST00000519668.1:c.1225C>T | ENSP00000430092.1:p.Arg409Ter | |
| ENST00000521168.5:n.265C>T | ||
| NM_001291339.1:c.1225C>T | NP_001278268.1:p.Arg409Ter | |
| NM_024790.6:c.2260C>T | NP_079066.5:p.Arg754Ter | |
| XM_005251305.3:c.2503C>T | XP_005251362.2:p.Arg835Ter | |
| XM_006716474.2:c.2350C>T | XP_006716537.2:p.Arg784Ter | |
| XM_006716477.2:c.1972C>T | XP_006716540.2:p.Arg658Ter | |
| XM_011517598.1:c.2545C>T | XP_011515900.1:p.Arg849Ter | |
| XM_011517599.1:c.2521C>T | XP_011515901.1:p.Arg841Ter | |
| XM_011517600.1:c.2479C>T | XP_011515902.1:p.Arg827Ter | |
| XM_011517601.1:c.2440C>T | XP_011515903.1:p.Arg814Ter | |
| XM_011517602.1:c.2398C>T | XP_011515904.1:p.Arg800Ter | |
| XM_011517603.1:c.2299C>T | XP_011515905.1:p.Arg767Ter | |
| XM_011517604.1:c.2299C>T | XP_011515906.1:p.Arg767Ter | |
| XM_011517605.1:c.2299C>T | XP_011515907.1:p.Arg767Ter | |
| XM_011517606.1:c.2275C>T | XP_011515908.1:p.Arg759Ter | |
| XM_011517607.1:c.2275C>T | XP_011515909.1:p.Arg759Ter | |
| XM_011517608.1:c.2194C>T | XP_011515910.1:p.Arg732Ter | |
| XM_011517609.1:c.1420C>T | XP_011515911.1:p.Arg474Ter | |
| XM_011517610.1:c.940C>T | XP_011515912.1:p.Arg314Ter | |
| XM_011517611.1:c.580C>T | XP_011515913.1:p.Arg194Ter | |
| NM_001363131.1:c.2194C>T | NP_001350060.1:p.Arg732Ter | |
| NM_001363132.1:c.2080C>T | NP_001350061.1:p.Arg694Ter | |
| NM_001363133.1:c.1999C>T | NP_001350062.1:p.Arg667Ter | |
| NM_001364869.1:c.2341C>T | NP_001351798.1:p.Arg781Ter | |
| NM_001364870.1:c.2161C>T | NP_001351799.1:p.Arg721Ter | |
| XM_005251305.4:c.2503C>T | XP_005251362.2:p.Arg835Ter | |
| XM_006716474.3:c.2350C>T | XP_006716537.2:p.Arg784Ter | |
| XM_006716477.3:c.1972C>T | XP_006716540.2:p.Arg658Ter | |
| XM_011517598.2:c.2545C>T | XP_011515900.1:p.Arg849Ter | |
| XM_011517599.2:c.2521C>T | XP_011515901.1:p.Arg841Ter | |
| XM_011517600.2:c.2479C>T | XP_011515902.1:p.Arg827Ter | |
| XM_011517601.2:c.2440C>T | XP_011515903.1:p.Arg814Ter | |
| XM_011517602.2:c.2398C>T | XP_011515904.1:p.Arg800Ter | |
| XM_011517603.2:c.2299C>T | XP_011515905.1:p.Arg767Ter | |
| XM_011517607.2:c.2275C>T | XP_011515909.1:p.Arg759Ter | |
| XM_011517609.2:c.1420C>T | XP_011515911.1:p.Arg474Ter | |
| XM_011517611.3:c.580C>T | XP_011515913.1:p.Arg194Ter | |
| XM_017013847.2:c.2404C>T | XP_016869336.1:p.Arg802Ter | |
| XM_017013848.2:c.2380C>T | XP_016869337.1:p.Arg794Ter | |
| XM_017013849.2:c.2341C>T | XP_016869338.1:p.Arg781Ter | |
| XM_017013850.2:c.2299C>T | XP_016869339.1:p.Arg767Ter | |
| XM_017013851.2:c.2152C>T | XP_016869340.1:p.Arg718Ter | |
| XM_017013852.2:c.2146C>T | XP_016869341.1:p.Arg716Ter | |
| XM_017013854.2:c.1948C>T | XP_016869343.1:p.Arg650Ter | |
| XM_017013855.2:c.1714C>T | XP_016869344.1:p.Arg572Ter | |
| XM_017013856.2:c.1621C>T | XP_016869345.1:p.Arg541Ter | |
| XM_017013858.2:c.787C>T | XP_016869347.1:p.Arg263Ter | |
| XM_024447278.1:c.2275C>T | XP_024303046.1:p.Arg759Ter | |
| XM_024447279.1:c.2194C>T | XP_024303047.1:p.Arg732Ter | |
| XM_024447281.1:c.1999C>T | XP_024303049.1:p.Arg667Ter | |
| XM_024447282.1:c.1702C>T | XP_024303050.1:p.Arg568Ter | |
| XM_024447283.1:c.1378C>T | XP_024303051.1:p.Arg460Ter | |
| XM_024447284.1:c.940C>T | XP_024303052.1:p.Arg314Ter | |
| NM_001363131.2:c.2194C>T | NP_001350060.1:p.Arg732Ter | |
| NM_001363132.2:c.2080C>T | NP_001350061.1:p.Arg694Ter | |
| NM_001363133.2:c.1999C>T | NP_001350062.1:p.Arg667Ter | |
| NM_001291339.2:c.1225C>T | NP_001278268.1:p.Arg409Ter | |
| NM_001382391.1:c.2275C>T MANE Select | NP_001369320.1:p.Arg759Ter |