This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67154096T>A , CM000670.2:g.67154096T>A | GRCh38 |
| NC_000008.10:g.68066331T>A , CM000670.1:g.68066331T>A | GRCh37 |
| NC_000008.9:g.68228885T>A | NCBI36 |
| NG_034100.1:g.94729T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2267T>A | ENSP00000262210.6:p.Ile756Asn | |
| ENST00000521324.3:c.73T>A | ||
| ENST00000674993.1:c.2291T>A | ENSP00000502454.1:p.Ile764Asn | |
| ENST00000675306.2:c.1925T>A | ENSP00000502421.1:p.Ile642Asn | |
| ENST00000675869.1:c.2006T>A | ENSP00000502747.1:p.Ile669Asn | |
| ENST00000675955.1:c.2120T>A | ENSP00000501676.1:p.Ile707Asn | |
| ENST00000676113.1:c.2159T>A | ENSP00000501645.1:p.Ile720Asn | |
| ENST00000676317.1:c.2186T>A | ENSP00000502047.1:p.Ile729Asn | |
| ENST00000676471.1:c.1934T>A | ENSP00000503711.1:p.Ile645Asn | |
| ENST00000676534.1:n.5127T>A | ||
| ENST00000676567.1:c.*825T>A | ENSP00000503427.1:n.*825T>A | |
| ENST00000676573.1:c.1502T>A | ENSP00000504532.1:p.Ile501Asn | |
| ENST00000676605.1:c.2309T>A | ENSP00000503605.1:p.Ile770Asn | |
| ENST00000676695.1:c.2127T>A | ENSP00000503292.1:n.2127T>A | |
| ENST00000676697.1:n.3062T>A | ||
| ENST00000676804.1:c.504T>A | ||
| ENST00000676847.1:c.2180T>A | ENSP00000503336.1:p.Ile727Asn | |
| ENST00000676858.1:c.*162T>A | ENSP00000502925.1:n.*162T>A | |
| ENST00000676882.1:c.2087T>A | ENSP00000504342.1:p.Ile696Asn | |
| ENST00000676968.1:c.73T>A | ||
| ENST00000677009.1:c.2186T>A | ENSP00000503297.1:p.Ile729Asn | |
| ENST00000677052.1:n.1699T>A | ||
| ENST00000677131.1:c.73T>A | ||
| ENST00000677256.1:c.*1920T>A | ENSP00000504102.1:n.*1920T>A | |
| ENST00000677430.1:c.2120T>A | ENSP00000504177.1:p.Ile707Asn | |
| ENST00000677455.1:n.2074T>A | ||
| ENST00000677473.1:c.*217T>A | ENSP00000503534.1:n.*217T>A | |
| ENST00000677592.1:c.2168T>A | ENSP00000504516.1:p.Ile723Asn | |
| ENST00000677619.1:c.1547T>A | ENSP00000504522.1:p.Ile516Asn | |
| ENST00000677845.1:c.*572T>A | ENSP00000503524.1:n.*572T>A | |
| ENST00000677855.1:c.1550-4351T>A | ENSP00000504757.1:n.1550-4351T>A | |
| ENST00000677964.1:c.73T>A | ||
| ENST00000678017.1:c.1052T>A | ENSP00000504394.1:p.Ile351Asn | |
| ENST00000678138.1:n.2364T>A | ||
| ENST00000678156.1:n.1841T>A | ||
| ENST00000678318.1:c.1736T>A | ENSP00000503690.1:p.Ile579Asn | |
| ENST00000678362.1:c.*978T>A | ENSP00000504317.1:n.*978T>A | |
| ENST00000678542.1:c.2309T>A | ENSP00000503878.1:p.Ile770Asn | |
| ENST00000678616.1:c.2201T>A MANE Select | ENSP00000504733.1:p.Ile734Asn | |
| ENST00000678635.1:n.696T>A | ||
| ENST00000678645.1:c.2078T>A | ENSP00000504031.1:p.Ile693Asn | |
| ENST00000678723.1:c.73T>A | ||
| ENST00000678747.1:c.1628T>A | ENSP00000503390.1:p.Ile543Asn | |
| ENST00000678807.1:n.1236T>A | ||
| ENST00000678895.1:c.73T>A | ||
| ENST00000679042.1:n.3026T>A | ||
| ENST00000679112.1:c.*2100T>A | ENSP00000503739.1:n.*2100T>A | |
| ENST00000679226.1:c.1925T>A | ENSP00000503601.1:p.Ile642Asn | |
| ENST00000679274.1:n.1125T>A | ||
| ENST00000679295.1:n.1172T>A | ||
| ENST00000262210.9:c.2186T>A | ENSP00000262210.5:p.Ile729Asn | |
| ENST00000519163.6:c.*2452T>A | ENSP00000428694.1:n.*2452T>A | |
| ENST00000519668.1:c.1151T>A | ENSP00000430092.1:p.Ile384Asn | |
| NM_001291339.1:c.1151T>A | NP_001278268.1:p.Ile384Asn | |
| NM_024790.6:c.2186T>A | NP_079066.5:p.Ile729Asn | |
| XM_005251305.3:c.2429T>A | XP_005251362.2:p.Ile810Asn | |
| XM_006716474.2:c.2276T>A | XP_006716537.2:p.Ile759Asn | |
| XM_006716477.2:c.1898T>A | XP_006716540.2:p.Ile633Asn | |
| XM_011517598.1:c.2471T>A | XP_011515900.1:p.Ile824Asn | |
| XM_011517599.1:c.2447T>A | XP_011515901.1:p.Ile816Asn | |
| XM_011517600.1:c.2405T>A | XP_011515902.1:p.Ile802Asn | |
| XM_011517601.1:c.2366T>A | XP_011515903.1:p.Ile789Asn | |
| XM_011517602.1:c.2324T>A | XP_011515904.1:p.Ile775Asn | |
| XM_011517603.1:c.2225T>A | XP_011515905.1:p.Ile742Asn | |
| XM_011517604.1:c.2225T>A | XP_011515906.1:p.Ile742Asn | |
| XM_011517605.1:c.2225T>A | XP_011515907.1:p.Ile742Asn | |
| XM_011517606.1:c.2201T>A | XP_011515908.1:p.Ile734Asn | |
| XM_011517607.1:c.2201T>A | XP_011515909.1:p.Ile734Asn | |
| XM_011517608.1:c.2120T>A | XP_011515910.1:p.Ile707Asn | |
| XM_011517609.1:c.1346T>A | XP_011515911.1:p.Ile449Asn | |
| XM_011517610.1:c.866T>A | XP_011515912.1:p.Ile289Asn | |
| XM_011517611.1:c.506T>A | XP_011515913.1:p.Ile169Asn | |
| NM_001363131.1:c.2120T>A | NP_001350060.1:p.Ile707Asn | |
| NM_001363132.1:c.2006T>A | NP_001350061.1:p.Ile669Asn | |
| NM_001363133.1:c.1925T>A | NP_001350062.1:p.Ile642Asn | |
| NM_001364869.1:c.2267T>A | NP_001351798.1:p.Ile756Asn | |
| NM_001364870.1:c.2087T>A | NP_001351799.1:p.Ile696Asn | |
| XM_005251305.4:c.2429T>A | XP_005251362.2:p.Ile810Asn | |
| XM_006716474.3:c.2276T>A | XP_006716537.2:p.Ile759Asn | |
| XM_006716477.3:c.1898T>A | XP_006716540.2:p.Ile633Asn | |
| XM_011517598.2:c.2471T>A | XP_011515900.1:p.Ile824Asn | |
| XM_011517599.2:c.2447T>A | XP_011515901.1:p.Ile816Asn | |
| XM_011517600.2:c.2405T>A | XP_011515902.1:p.Ile802Asn | |
| XM_011517601.2:c.2366T>A | XP_011515903.1:p.Ile789Asn | |
| XM_011517602.2:c.2324T>A | XP_011515904.1:p.Ile775Asn | |
| XM_011517603.2:c.2225T>A | XP_011515905.1:p.Ile742Asn | |
| XM_011517607.2:c.2201T>A | XP_011515909.1:p.Ile734Asn | |
| XM_011517609.2:c.1346T>A | XP_011515911.1:p.Ile449Asn | |
| XM_011517611.3:c.506T>A | XP_011515913.1:p.Ile169Asn | |
| XM_017013847.2:c.2330T>A | XP_016869336.1:p.Ile777Asn | |
| XM_017013848.2:c.2306T>A | XP_016869337.1:p.Ile769Asn | |
| XM_017013849.2:c.2267T>A | XP_016869338.1:p.Ile756Asn | |
| XM_017013850.2:c.2225T>A | XP_016869339.1:p.Ile742Asn | |
| XM_017013851.2:c.2078T>A | XP_016869340.1:p.Ile693Asn | |
| XM_017013852.2:c.2072T>A | XP_016869341.1:p.Ile691Asn | |
| XM_017013854.2:c.1874T>A | XP_016869343.1:p.Ile625Asn | |
| XM_017013855.2:c.1640T>A | XP_016869344.1:p.Ile547Asn | |
| XM_017013856.2:c.1547T>A | XP_016869345.1:p.Ile516Asn | |
| XM_017013858.2:c.713T>A | XP_016869347.1:p.Ile238Asn | |
| XM_024447278.1:c.2201T>A | XP_024303046.1:p.Ile734Asn | |
| XM_024447279.1:c.2120T>A | XP_024303047.1:p.Ile707Asn | |
| XM_024447281.1:c.1925T>A | XP_024303049.1:p.Ile642Asn | |
| XM_024447282.1:c.1628T>A | XP_024303050.1:p.Ile543Asn | |
| XM_024447283.1:c.1304T>A | XP_024303051.1:p.Ile435Asn | |
| XM_024447284.1:c.866T>A | XP_024303052.1:p.Ile289Asn | |
| NM_001363131.2:c.2120T>A | NP_001350060.1:p.Ile707Asn | |
| NM_001363132.2:c.2006T>A | NP_001350061.1:p.Ile669Asn | |
| NM_001363133.2:c.1925T>A | NP_001350062.1:p.Ile642Asn | |
| NM_001291339.2:c.1151T>A | NP_001278268.1:p.Ile384Asn | |
| NM_001382391.1:c.2201T>A MANE Select | NP_001369320.1:p.Ile734Asn |