Linked Data
ClinVar Variation Id:
100676
ClinVar RCV Id:
RCV000087076
dbSNP Id:
rs537456518
gnomAD v2:
8-68076703-C-T
gnomAD v4:
8-67164468-C-T
PubMed:
PMID:24360807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67164468C>T , CM000670.2:g.67164468C>T | GRCh38 |
| NC_000008.10:g.68076703C>T , CM000670.1:g.68076703C>T | GRCh37 |
| NC_000008.9:g.68239257C>T | NCBI36 |
| NG_034100.1:g.105101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2854C>T | ENSP00000262210.6:p.Arg952Ter | |
| ENST00000521324.3:c.660C>T | ||
| ENST00000674993.1:c.2878C>T | ENSP00000502454.1:p.Arg960Ter | |
| ENST00000675306.2:c.2512C>T | ENSP00000502421.1:p.Arg838Ter | |
| ENST00000675869.1:c.2593C>T | ENSP00000502747.1:p.Arg865Ter | |
| ENST00000675955.1:c.2707C>T | ENSP00000501676.1:p.Arg903Ter | |
| ENST00000675990.1:n.4117C>T | ||
| ENST00000676113.1:c.2746C>T | ENSP00000501645.1:p.Arg916Ter | |
| ENST00000676317.1:c.2773C>T | ENSP00000502047.1:p.Arg925Ter | |
| ENST00000676471.1:c.2521C>T | ENSP00000503711.1:p.Arg841Ter | |
| ENST00000676573.1:c.2089C>T | ENSP00000504532.1:p.Arg697Ter | |
| ENST00000676605.1:c.2896C>T | ENSP00000503605.1:p.Arg966Ter | |
| ENST00000676804.1:c.1091C>T | ||
| ENST00000676847.1:c.2767C>T | ENSP00000503336.1:p.Arg923Ter | |
| ENST00000676858.1:c.*749C>T | ENSP00000502925.1:n.*749C>T | |
| ENST00000676882.1:c.2674C>T | ENSP00000504342.1:p.Arg892Ter | |
| ENST00000676968.1:c.660C>T | ||
| ENST00000677009.1:c.2773C>T | ENSP00000503297.1:p.Arg925Ter | |
| ENST00000677052.1:n.2286C>T | ||
| ENST00000677131.1:c.660C>T | ||
| ENST00000677256.1:c.*2507C>T | ENSP00000504102.1:n.*2507C>T | |
| ENST00000677430.1:c.*380C>T | ENSP00000504177.1:n.*380C>T | |
| ENST00000677473.1:c.*804C>T | ENSP00000503534.1:n.*804C>T | |
| ENST00000677592.1:c.2755C>T | ENSP00000504516.1:p.Arg919Ter | |
| ENST00000677619.1:c.2134C>T | ENSP00000504522.1:p.Arg712Ter | |
| ENST00000677697.1:n.751C>T | ||
| ENST00000677845.1:c.*1159C>T | ENSP00000503524.1:n.*1159C>T | |
| ENST00000677855.1:c.2096C>T | ENSP00000504757.1:n.2096C>T | |
| ENST00000677964.1:c.785C>T | ||
| ENST00000678017.1:c.1639C>T | ENSP00000504394.1:p.Arg547Ter | |
| ENST00000678156.1:n.2428C>T | ||
| ENST00000678318.1:c.2323C>T | ENSP00000503690.1:p.Arg775Ter | |
| ENST00000678542.1:c.2896C>T | ENSP00000503878.1:p.Arg966Ter | |
| ENST00000678616.1:c.2788C>T MANE Select | ENSP00000504733.1:p.Arg930Ter | |
| ENST00000678635.1:n.1283C>T | ||
| ENST00000678645.1:c.2665C>T | ENSP00000504031.1:p.Arg889Ter | |
| ENST00000678723.1:c.660C>T | ||
| ENST00000678747.1:c.2215C>T | ENSP00000503390.1:p.Arg739Ter | |
| ENST00000678895.1:c.660C>T | ||
| ENST00000679112.1:c.*2687C>T | ENSP00000503739.1:n.*2687C>T | |
| ENST00000679226.1:c.2512C>T | ENSP00000503601.1:p.Arg838Ter | |
| ENST00000679274.1:n.1712C>T | ||
| ENST00000679295.1:n.1759C>T | ||
| ENST00000262210.9:c.2773C>T | ENSP00000262210.5:p.Arg925Ter | |
| ENST00000519668.1:c.1738C>T | ENSP00000430092.1:p.Arg580Ter | |
| ENST00000521168.5:n.778C>T | ||
| NM_001291339.1:c.1738C>T | NP_001278268.1:p.Arg580Ter | |
| NM_024790.6:c.2773C>T | NP_079066.5:p.Arg925Ter | |
| XM_005251305.3:c.3016C>T | XP_005251362.2:p.Arg1006Ter | |
| XM_006716474.2:c.2863C>T | XP_006716537.2:p.Arg955Ter | |
| XM_006716477.2:c.2485C>T | XP_006716540.2:p.Arg829Ter | |
| XM_011517598.1:c.3058C>T | XP_011515900.1:p.Arg1020Ter | |
| XM_011517599.1:c.3034C>T | XP_011515901.1:p.Arg1012Ter | |
| XM_011517600.1:c.2992C>T | XP_011515902.1:p.Arg998Ter | |
| XM_011517601.1:c.2953C>T | XP_011515903.1:p.Arg985Ter | |
| XM_011517602.1:c.2911C>T | XP_011515904.1:p.Arg971Ter | |
| XM_011517603.1:c.2812C>T | XP_011515905.1:p.Arg938Ter | |
| XM_011517604.1:c.2812C>T | XP_011515906.1:p.Arg938Ter | |
| XM_011517605.1:c.2812C>T | XP_011515907.1:p.Arg938Ter | |
| XM_011517606.1:c.2788C>T | XP_011515908.1:p.Arg930Ter | |
| XM_011517607.1:c.2788C>T | XP_011515909.1:p.Arg930Ter | |
| XM_011517608.1:c.2707C>T | XP_011515910.1:p.Arg903Ter | |
| XM_011517609.1:c.1933C>T | XP_011515911.1:p.Arg645Ter | |
| XM_011517610.1:c.1453C>T | XP_011515912.1:p.Arg485Ter | |
| XM_011517611.1:c.1093C>T | XP_011515913.1:p.Arg365Ter | |
| NM_001363131.1:c.2707C>T | NP_001350060.1:p.Arg903Ter | |
| NM_001363132.1:c.2593C>T | NP_001350061.1:p.Arg865Ter | |
| NM_001363133.1:c.2512C>T | NP_001350062.1:p.Arg838Ter | |
| NM_001364869.1:c.2854C>T | NP_001351798.1:p.Arg952Ter | |
| NM_001364870.1:c.2674C>T | NP_001351799.1:p.Arg892Ter | |
| XM_005251305.4:c.3016C>T | XP_005251362.2:p.Arg1006Ter | |
| XM_006716474.3:c.2863C>T | XP_006716537.2:p.Arg955Ter | |
| XM_006716477.3:c.2485C>T | XP_006716540.2:p.Arg829Ter | |
| XM_011517598.2:c.3058C>T | XP_011515900.1:p.Arg1020Ter | |
| XM_011517599.2:c.3034C>T | XP_011515901.1:p.Arg1012Ter | |
| XM_011517600.2:c.2992C>T | XP_011515902.1:p.Arg998Ter | |
| XM_011517601.2:c.2953C>T | XP_011515903.1:p.Arg985Ter | |
| XM_011517602.2:c.2911C>T | XP_011515904.1:p.Arg971Ter | |
| XM_011517603.2:c.2812C>T | XP_011515905.1:p.Arg938Ter | |
| XM_011517607.2:c.2788C>T | XP_011515909.1:p.Arg930Ter | |
| XM_011517609.2:c.1933C>T | XP_011515911.1:p.Arg645Ter | |
| XM_011517611.3:c.1093C>T | XP_011515913.1:p.Arg365Ter | |
| XM_017013847.2:c.2917C>T | XP_016869336.1:p.Arg973Ter | |
| XM_017013848.2:c.2893C>T | XP_016869337.1:p.Arg965Ter | |
| XM_017013849.2:c.2854C>T | XP_016869338.1:p.Arg952Ter | |
| XM_017013850.2:c.2812C>T | XP_016869339.1:p.Arg938Ter | |
| XM_017013851.2:c.2665C>T | XP_016869340.1:p.Arg889Ter | |
| XM_017013852.2:c.2659C>T | XP_016869341.1:p.Arg887Ter | |
| XM_017013854.2:c.2461C>T | XP_016869343.1:p.Arg821Ter | |
| XM_017013855.2:c.2227C>T | XP_016869344.1:p.Arg743Ter | |
| XM_017013856.2:c.2134C>T | XP_016869345.1:p.Arg712Ter | |
| XM_017013858.2:c.1300C>T | XP_016869347.1:p.Arg434Ter | |
| XM_024447278.1:c.2788C>T | XP_024303046.1:p.Arg930Ter | |
| XM_024447279.1:c.2707C>T | XP_024303047.1:p.Arg903Ter | |
| XM_024447281.1:c.2512C>T | XP_024303049.1:p.Arg838Ter | |
| XM_024447282.1:c.2215C>T | XP_024303050.1:p.Arg739Ter | |
| XM_024447283.1:c.1891C>T | XP_024303051.1:p.Arg631Ter | |
| XM_024447284.1:c.1453C>T | XP_024303052.1:p.Arg485Ter | |
| NM_001363131.2:c.2707C>T | NP_001350060.1:p.Arg903Ter | |
| NM_001363132.2:c.2593C>T | NP_001350061.1:p.Arg865Ter | |
| NM_001363133.2:c.2512C>T | NP_001350062.1:p.Arg838Ter | |
| NM_001291339.2:c.1738C>T | NP_001278268.1:p.Arg580Ter | |
| NM_001382391.1:c.2788C>T MANE Select | NP_001369320.1:p.Arg930Ter |