Linked Data
ClinVar Variation Id:
100666
ClinVar RCV Id:
RCV000087066
dbSNP Id:
rs587777138
gnomAD v2:
8-68070775-C-T
gnomAD v3:
8-67158540-C-T
gnomAD v4:
8-67158540-C-T
PubMed:
PMID:24360808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67158540C>T , CM000670.2:g.67158540C>T | GRCh38 |
| NC_000008.10:g.68070775C>T , CM000670.1:g.68070775C>T | GRCh37 |
| NC_000008.9:g.68233329C>T | NCBI36 |
| NG_034100.1:g.99173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2401C>T | ENSP00000262210.6:p.Arg801Ter | |
| ENST00000521324.3:c.207C>T | ||
| ENST00000674993.1:c.2425C>T | ENSP00000502454.1:p.Arg809Ter | |
| ENST00000675306.2:c.2059C>T | ENSP00000502421.1:p.Arg687Ter | |
| ENST00000675869.1:c.2140C>T | ENSP00000502747.1:p.Arg714Ter | |
| ENST00000675955.1:c.2254C>T | ENSP00000501676.1:p.Arg752Ter | |
| ENST00000675990.1:n.3664C>T | ||
| ENST00000676113.1:c.2293C>T | ENSP00000501645.1:p.Arg765Ter | |
| ENST00000676317.1:c.2320C>T | ENSP00000502047.1:p.Arg774Ter | |
| ENST00000676471.1:c.2068C>T | ENSP00000503711.1:p.Arg690Ter | |
| ENST00000676534.1:n.5261C>T | ||
| ENST00000676567.1:c.*959C>T | ENSP00000503427.1:n.*959C>T | |
| ENST00000676573.1:c.1636C>T | ENSP00000504532.1:p.Arg546Ter | |
| ENST00000676605.1:c.2443C>T | ENSP00000503605.1:p.Arg815Ter | |
| ENST00000676695.1:c.2261C>T | ENSP00000503292.1:n.2261C>T | |
| ENST00000676697.1:n.3196C>T | ||
| ENST00000676804.1:c.638C>T | ||
| ENST00000676847.1:c.2314C>T | ENSP00000503336.1:p.Arg772Ter | |
| ENST00000676858.1:c.*296C>T | ENSP00000502925.1:n.*296C>T | |
| ENST00000676882.1:c.2221C>T | ENSP00000504342.1:p.Arg741Ter | |
| ENST00000676968.1:c.207C>T | ||
| ENST00000677009.1:c.2320C>T | ENSP00000503297.1:p.Arg774Ter | |
| ENST00000677052.1:n.1833C>T | ||
| ENST00000677131.1:c.207C>T | ||
| ENST00000677256.1:c.*2054C>T | ENSP00000504102.1:n.*2054C>T | |
| ENST00000677430.1:c.2254C>T | ENSP00000504177.1:p.Arg752Ter | |
| ENST00000677455.1:n.2208C>T | ||
| ENST00000677473.1:c.*351C>T | ENSP00000503534.1:n.*351C>T | |
| ENST00000677592.1:c.2302C>T | ENSP00000504516.1:p.Arg768Ter | |
| ENST00000677619.1:c.1681C>T | ENSP00000504522.1:p.Arg561Ter | |
| ENST00000677697.1:n.303C>T | ||
| ENST00000677845.1:c.*706C>T | ENSP00000503524.1:n.*706C>T | |
| ENST00000677855.1:c.1643C>T | ENSP00000504757.1:n.1643C>T | |
| ENST00000677964.1:c.207C>T | ||
| ENST00000678017.1:c.1186C>T | ENSP00000504394.1:p.Arg396Ter | |
| ENST00000678138.1:n.2498C>T | ||
| ENST00000678156.1:n.1975C>T | ||
| ENST00000678318.1:c.1870C>T | ENSP00000503690.1:p.Arg624Ter | |
| ENST00000678362.1:c.*1112C>T | ENSP00000504317.1:n.*1112C>T | |
| ENST00000678542.1:c.2443C>T | ENSP00000503878.1:p.Arg815Ter | |
| ENST00000678616.1:c.2335C>T MANE Select | ENSP00000504733.1:p.Arg779Ter | |
| ENST00000678635.1:n.830C>T | ||
| ENST00000678645.1:c.2212C>T | ENSP00000504031.1:p.Arg738Ter | |
| ENST00000678723.1:c.207C>T | ||
| ENST00000678747.1:c.1762C>T | ENSP00000503390.1:p.Arg588Ter | |
| ENST00000678807.1:n.1370C>T | ||
| ENST00000678895.1:c.207C>T | ||
| ENST00000679042.1:n.3160C>T | ||
| ENST00000679112.1:c.*2234C>T | ENSP00000503739.1:n.*2234C>T | |
| ENST00000679226.1:c.2059C>T | ENSP00000503601.1:p.Arg687Ter | |
| ENST00000679274.1:n.1259C>T | ||
| ENST00000679295.1:n.1306C>T | ||
| ENST00000262210.9:c.2320C>T | ENSP00000262210.5:p.Arg774Ter | |
| ENST00000519163.6:c.*2586C>T | ENSP00000428694.1:n.*2586C>T | |
| ENST00000519668.1:c.1285C>T | ENSP00000430092.1:p.Arg429Ter | |
| ENST00000521168.5:n.325C>T | ||
| NM_001291339.1:c.1285C>T | NP_001278268.1:p.Arg429Ter | |
| NM_024790.6:c.2320C>T | NP_079066.5:p.Arg774Ter | |
| XM_005251305.3:c.2563C>T | XP_005251362.2:p.Arg855Ter | |
| XM_006716474.2:c.2410C>T | XP_006716537.2:p.Arg804Ter | |
| XM_006716477.2:c.2032C>T | XP_006716540.2:p.Arg678Ter | |
| XM_011517598.1:c.2605C>T | XP_011515900.1:p.Arg869Ter | |
| XM_011517599.1:c.2581C>T | XP_011515901.1:p.Arg861Ter | |
| XM_011517600.1:c.2539C>T | XP_011515902.1:p.Arg847Ter | |
| XM_011517601.1:c.2500C>T | XP_011515903.1:p.Arg834Ter | |
| XM_011517602.1:c.2458C>T | XP_011515904.1:p.Arg820Ter | |
| XM_011517603.1:c.2359C>T | XP_011515905.1:p.Arg787Ter | |
| XM_011517604.1:c.2359C>T | XP_011515906.1:p.Arg787Ter | |
| XM_011517605.1:c.2359C>T | XP_011515907.1:p.Arg787Ter | |
| XM_011517606.1:c.2335C>T | XP_011515908.1:p.Arg779Ter | |
| XM_011517607.1:c.2335C>T | XP_011515909.1:p.Arg779Ter | |
| XM_011517608.1:c.2254C>T | XP_011515910.1:p.Arg752Ter | |
| XM_011517609.1:c.1480C>T | XP_011515911.1:p.Arg494Ter | |
| XM_011517610.1:c.1000C>T | XP_011515912.1:p.Arg334Ter | |
| XM_011517611.1:c.640C>T | XP_011515913.1:p.Arg214Ter | |
| NM_001363131.1:c.2254C>T | NP_001350060.1:p.Arg752Ter | |
| NM_001363132.1:c.2140C>T | NP_001350061.1:p.Arg714Ter | |
| NM_001363133.1:c.2059C>T | NP_001350062.1:p.Arg687Ter | |
| NM_001364869.1:c.2401C>T | NP_001351798.1:p.Arg801Ter | |
| NM_001364870.1:c.2221C>T | NP_001351799.1:p.Arg741Ter | |
| XM_005251305.4:c.2563C>T | XP_005251362.2:p.Arg855Ter | |
| XM_006716474.3:c.2410C>T | XP_006716537.2:p.Arg804Ter | |
| XM_006716477.3:c.2032C>T | XP_006716540.2:p.Arg678Ter | |
| XM_011517598.2:c.2605C>T | XP_011515900.1:p.Arg869Ter | |
| XM_011517599.2:c.2581C>T | XP_011515901.1:p.Arg861Ter | |
| XM_011517600.2:c.2539C>T | XP_011515902.1:p.Arg847Ter | |
| XM_011517601.2:c.2500C>T | XP_011515903.1:p.Arg834Ter | |
| XM_011517602.2:c.2458C>T | XP_011515904.1:p.Arg820Ter | |
| XM_011517603.2:c.2359C>T | XP_011515905.1:p.Arg787Ter | |
| XM_011517607.2:c.2335C>T | XP_011515909.1:p.Arg779Ter | |
| XM_011517609.2:c.1480C>T | XP_011515911.1:p.Arg494Ter | |
| XM_011517611.3:c.640C>T | XP_011515913.1:p.Arg214Ter | |
| XM_017013847.2:c.2464C>T | XP_016869336.1:p.Arg822Ter | |
| XM_017013848.2:c.2440C>T | XP_016869337.1:p.Arg814Ter | |
| XM_017013849.2:c.2401C>T | XP_016869338.1:p.Arg801Ter | |
| XM_017013850.2:c.2359C>T | XP_016869339.1:p.Arg787Ter | |
| XM_017013851.2:c.2212C>T | XP_016869340.1:p.Arg738Ter | |
| XM_017013852.2:c.2206C>T | XP_016869341.1:p.Arg736Ter | |
| XM_017013854.2:c.2008C>T | XP_016869343.1:p.Arg670Ter | |
| XM_017013855.2:c.1774C>T | XP_016869344.1:p.Arg592Ter | |
| XM_017013856.2:c.1681C>T | XP_016869345.1:p.Arg561Ter | |
| XM_017013858.2:c.847C>T | XP_016869347.1:p.Arg283Ter | |
| XM_024447278.1:c.2335C>T | XP_024303046.1:p.Arg779Ter | |
| XM_024447279.1:c.2254C>T | XP_024303047.1:p.Arg752Ter | |
| XM_024447281.1:c.2059C>T | XP_024303049.1:p.Arg687Ter | |
| XM_024447282.1:c.1762C>T | XP_024303050.1:p.Arg588Ter | |
| XM_024447283.1:c.1438C>T | XP_024303051.1:p.Arg480Ter | |
| XM_024447284.1:c.1000C>T | XP_024303052.1:p.Arg334Ter | |
| NM_001363131.2:c.2254C>T | NP_001350060.1:p.Arg752Ter | |
| NM_001363132.2:c.2140C>T | NP_001350061.1:p.Arg714Ter | |
| NM_001363133.2:c.2059C>T | NP_001350062.1:p.Arg687Ter | |
| NM_001291339.2:c.1285C>T | NP_001278268.1:p.Arg429Ter | |
| NM_001382391.1:c.2335C>T MANE Select | NP_001369320.1:p.Arg779Ter |