Linked Data
ClinVar Variation Id:
2829182
ClinVar RCV Id:
RCV003744296
MyVariant Identifiers:
chr8:g.68044237T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67132002T>C , CM000670.2:g.67132002T>C | GRCh38 |
| NC_000008.10:g.68044237T>C , CM000670.1:g.68044237T>C | GRCh37 |
| NC_000008.9:g.68206791T>C | NCBI36 |
| NG_034100.1:g.72635T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.1815T>C | ENSP00000262210.6:p.Asn605= | |
| ENST00000674993.1:c.1839T>C | ENSP00000502454.1:p.Asn613= | |
| ENST00000675306.2:c.1626T>C | ENSP00000502421.1:p.Asn542= | |
| ENST00000675820.1:c.*1540T>C | ENSP00000501959.1:n.*1540T>C | |
| ENST00000675869.1:c.1707T>C | ENSP00000502747.1:p.Asn569= | |
| ENST00000675955.1:c.1668T>C | ENSP00000501676.1:p.Asn556= | |
| ENST00000676113.1:c.1707T>C | ENSP00000501645.1:p.Asn569= | |
| ENST00000676317.1:c.1734T>C | ENSP00000502047.1:p.Asn578= | |
| ENST00000676471.1:c.1635T>C | ENSP00000503711.1:p.Asn545= | |
| ENST00000676534.1:n.4675T>C | ||
| ENST00000676567.1:c.*526T>C | ENSP00000503427.1:n.*526T>C | |
| ENST00000676573.1:c.1203T>C | ENSP00000504532.1:p.Asn401= | |
| ENST00000676605.1:c.1857T>C | ENSP00000503605.1:p.Asn619= | |
| ENST00000676656.1:n.42T>C | ||
| ENST00000676695.1:c.1575T>C | ENSP00000503292.1:n.1575T>C | |
| ENST00000676697.1:n.2510T>C | ||
| ENST00000676804.1:c.52T>C | ||
| ENST00000676847.1:c.1728T>C | ENSP00000503336.1:p.Asn576= | |
| ENST00000676858.1:c.1620T>C | ENSP00000502925.1:p.Asn540= | |
| ENST00000676882.1:c.1635T>C | ENSP00000504342.1:p.Asn545= | |
| ENST00000677009.1:c.1734T>C | ENSP00000503297.1:p.Asn578= | |
| ENST00000677052.1:n.1247T>C | ||
| ENST00000677070.1:c.1416T>C | ENSP00000503014.1:p.Asn472= | |
| ENST00000677256.1:c.*1468T>C | ENSP00000504102.1:n.*1468T>C | |
| ENST00000677430.1:c.1668T>C | ENSP00000504177.1:p.Asn556= | |
| ENST00000677455.1:n.1775T>C | ||
| ENST00000677473.1:c.1677T>C | ENSP00000503534.1:p.Asn559= | |
| ENST00000677592.1:c.1716T>C | ENSP00000504516.1:p.Asn572= | |
| ENST00000677619.1:c.1095T>C | ENSP00000504522.1:p.Asn365= | |
| ENST00000677836.1:c.1339T>C | ENSP00000504345.1:n.1339T>C | |
| ENST00000677845.1:c.*120T>C | ENSP00000503524.1:n.*120T>C | |
| ENST00000677855.1:c.1323T>C | ENSP00000504757.1:p.Asn441= | |
| ENST00000678017.1:c.753T>C | ENSP00000504394.1:p.Asn251= | |
| ENST00000678138.1:n.2065T>C | ||
| ENST00000678156.1:n.1389T>C | ||
| ENST00000678216.1:n.1341T>C | ||
| ENST00000678318.1:c.1284T>C | ENSP00000503690.1:p.Asn428= | |
| ENST00000678345.1:c.462T>C | ENSP00000503668.1:p.Asn154= | |
| ENST00000678362.1:c.*526T>C | ENSP00000504317.1:n.*526T>C | |
| ENST00000678444.1:c.1433T>C | ENSP00000503879.1:n.1433T>C | |
| ENST00000678542.1:c.1857T>C | ENSP00000503878.1:p.Asn619= | |
| ENST00000678553.1:c.1677T>C | ENSP00000503747.1:p.Asn559= | |
| ENST00000678616.1:c.1749T>C MANE Select | ENSP00000504733.1:p.Asn583= | |
| ENST00000678635.1:n.244T>C | ||
| ENST00000678645.1:c.1626T>C | ENSP00000504031.1:p.Asn542= | |
| ENST00000678728.1:c.*526T>C | ENSP00000504830.1:n.*526T>C | |
| ENST00000678747.1:c.1176T>C | ENSP00000503390.1:p.Asn392= | |
| ENST00000678807.1:n.932T>C | ||
| ENST00000679042.1:n.2574T>C | ||
| ENST00000679112.1:c.*1648T>C | ENSP00000503739.1:n.*1648T>C | |
| ENST00000679226.1:c.1626T>C | ENSP00000503601.1:p.Asn542= | |
| ENST00000679274.1:n.673T>C | ||
| ENST00000262210.9:c.1734T>C | ENSP00000262210.5:p.Asn578= | |
| ENST00000519163.6:c.*2000T>C | ENSP00000428694.1:n.*2000T>C | |
| ENST00000519668.1:c.852T>C | ENSP00000430092.1:p.Asn284= | |
| NM_001291339.1:c.852T>C | NP_001278268.1:p.Asn284= | |
| NM_024790.6:c.1734T>C | NP_079066.5:p.Asn578= | |
| XM_005251305.3:c.1977T>C | XP_005251362.2:p.Asn659= | |
| XM_006716474.2:c.1977T>C | XP_006716537.2:p.Asn659= | |
| XM_006716477.2:c.1446T>C | XP_006716540.2:p.Asn482= | |
| XM_011517598.1:c.2019T>C | XP_011515900.1:p.Asn673= | |
| XM_011517599.1:c.1995T>C | XP_011515901.1:p.Asn665= | |
| XM_011517600.1:c.1953T>C | XP_011515902.1:p.Asn651= | |
| XM_011517601.1:c.1914T>C | XP_011515903.1:p.Asn638= | |
| XM_011517602.1:c.1872T>C | XP_011515904.1:p.Asn624= | |
| XM_011517603.1:c.1773T>C | XP_011515905.1:p.Asn591= | |
| XM_011517604.1:c.1773T>C | XP_011515906.1:p.Asn591= | |
| XM_011517605.1:c.1773T>C | XP_011515907.1:p.Asn591= | |
| XM_011517606.1:c.1749T>C | XP_011515908.1:p.Asn583= | |
| XM_011517607.1:c.1749T>C | XP_011515909.1:p.Asn583= | |
| XM_011517608.1:c.1668T>C | XP_011515910.1:p.Asn556= | |
| XM_011517609.1:c.894T>C | XP_011515911.1:p.Asn298= | |
| XM_011517610.1:c.414T>C | XP_011515912.1:p.Asn138= | |
| XM_011517611.1:c.54T>C | XP_011515913.1:p.Asn18= | |
| NM_001363131.1:c.1668T>C | NP_001350060.1:p.Asn556= | |
| NM_001363132.1:c.1707T>C | NP_001350061.1:p.Asn569= | |
| NM_001363133.1:c.1626T>C | NP_001350062.1:p.Asn542= | |
| NM_001364869.1:c.1815T>C | NP_001351798.1:p.Asn605= | |
| NM_001364870.1:c.1635T>C | NP_001351799.1:p.Asn545= | |
| XM_005251305.4:c.1977T>C | XP_005251362.2:p.Asn659= | |
| XM_006716474.3:c.1977T>C | XP_006716537.2:p.Asn659= | |
| XM_006716477.3:c.1446T>C | XP_006716540.2:p.Asn482= | |
| XM_011517598.2:c.2019T>C | XP_011515900.1:p.Asn673= | |
| XM_011517599.2:c.1995T>C | XP_011515901.1:p.Asn665= | |
| XM_011517600.2:c.1953T>C | XP_011515902.1:p.Asn651= | |
| XM_011517601.2:c.1914T>C | XP_011515903.1:p.Asn638= | |
| XM_011517602.2:c.1872T>C | XP_011515904.1:p.Asn624= | |
| XM_011517603.2:c.1773T>C | XP_011515905.1:p.Asn591= | |
| XM_011517607.2:c.1749T>C | XP_011515909.1:p.Asn583= | |
| XM_011517609.2:c.894T>C | XP_011515911.1:p.Asn298= | |
| XM_011517611.3:c.54T>C | XP_011515913.1:p.Asn18= | |
| XM_017013847.2:c.1878T>C | XP_016869336.1:p.Asn626= | |
| XM_017013848.2:c.1854T>C | XP_016869337.1:p.Asn618= | |
| XM_017013849.2:c.1815T>C | XP_016869338.1:p.Asn605= | |
| XM_017013850.2:c.1773T>C | XP_016869339.1:p.Asn591= | |
| XM_017013851.2:c.1626T>C | XP_016869340.1:p.Asn542= | |
| XM_017013852.2:c.1773T>C | XP_016869341.1:p.Asn591= | |
| XM_017013854.2:c.1422T>C | XP_016869343.1:p.Asn474= | |
| XM_017013855.2:c.1341T>C | XP_016869344.1:p.Asn447= | |
| XM_017013856.2:c.1095T>C | XP_016869345.1:p.Asn365= | |
| XM_017013858.2:c.414T>C | XP_016869347.1:p.Asn138= | |
| XM_024447278.1:c.1749T>C | XP_024303046.1:p.Asn583= | |
| XM_024447279.1:c.1668T>C | XP_024303047.1:p.Asn556= | |
| XM_024447281.1:c.1626T>C | XP_024303049.1:p.Asn542= | |
| XM_024447282.1:c.1176T>C | XP_024303050.1:p.Asn392= | |
| XM_024447283.1:c.852T>C | XP_024303051.1:p.Asn284= | |
| XM_024447284.1:c.414T>C | XP_024303052.1:p.Asn138= | |
| NM_001363131.2:c.1668T>C | NP_001350060.1:p.Asn556= | |
| NM_001363132.2:c.1707T>C | NP_001350061.1:p.Asn569= | |
| NM_001363133.2:c.1626T>C | NP_001350062.1:p.Asn542= | |
| NM_001291339.2:c.852T>C | NP_001278268.1:p.Asn284= | |
| NM_001382391.1:c.1749T>C MANE Select | NP_001369320.1:p.Asn583= |