Linked Data
ClinVar Variation Id:
217647
ClinVar RCV Id:
RCV000201750
dbSNP Id:
rs863225193
gnomAD v3:
8-67118822-G-T
gnomAD v4:
8-67118822-G-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67118822G>T , CM000670.2:g.67118822G>T | GRCh38 |
| NC_000008.10:g.68031057G>T , CM000670.1:g.68031057G>T | GRCh37 |
| NC_000008.9:g.68193611G>T | NCBI36 |
| NG_034100.1:g.59455G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.1763+1G>T | ENSP00000262210.6:n.1763+1G>T | |
| ENST00000674993.1:c.1787+1G>T | ENSP00000502454.1:n.1787+1G>T | |
| ENST00000675306.2:c.1574+1G>T | ENSP00000502421.1:n.1574+1G>T | |
| ENST00000675820.1:c.*1488+1G>T | ENSP00000501959.1:n.*1488+1G>T | |
| ENST00000675869.1:c.1655+1G>T | ENSP00000502747.1:n.1655+1G>T | |
| ENST00000675955.1:c.1616+1G>T | ENSP00000501676.1:n.1616+1G>T | |
| ENST00000676113.1:c.1655+1G>T | ENSP00000501645.1:n.1655+1G>T | |
| ENST00000676317.1:c.1682+1G>T | ENSP00000502047.1:n.1682+1G>T | |
| ENST00000676471.1:c.1583+1G>T | ENSP00000503711.1:n.1583+1G>T | |
| ENST00000676534.1:n.4623+1G>T | ||
| ENST00000676567.1:c.*474+1G>T | ENSP00000503427.1:n.*474+1G>T | |
| ENST00000676573.1:c.1151+1G>T | ENSP00000504532.1:n.1151+1G>T | |
| ENST00000676605.1:c.1805+1G>T | ENSP00000503605.1:n.1805+1G>T | |
| ENST00000676695.1:c.1271+1G>T | ENSP00000503292.1:n.1271+1G>T | |
| ENST00000676697.1:n.2458+1G>T | ||
| ENST00000676847.1:c.1676+1G>T | ENSP00000503336.1:n.1676+1G>T | |
| ENST00000676858.1:c.1568+1G>T | ENSP00000502925.1:n.1568+1G>T | |
| ENST00000676882.1:c.1583+1G>T | ENSP00000504342.1:n.1583+1G>T | |
| ENST00000677009.1:c.1682+1G>T | ENSP00000503297.1:n.1682+1G>T | |
| ENST00000677052.1:n.1195+1G>T | ||
| ENST00000677070.1:c.1364+1G>T | ENSP00000503014.1:n.1364+1G>T | |
| ENST00000677256.1:c.*1416+1G>T | ENSP00000504102.1:n.*1416+1G>T | |
| ENST00000677430.1:c.1616+1G>T | ENSP00000504177.1:n.1616+1G>T | |
| ENST00000677455.1:n.1723+1G>T | ||
| ENST00000677473.1:c.1625+1G>T | ENSP00000503534.1:n.1625+1G>T | |
| ENST00000677592.1:c.1664+1G>T | ENSP00000504516.1:n.1664+1G>T | |
| ENST00000677619.1:c.1043+1G>T | ENSP00000504522.1:n.1043+1G>T | |
| ENST00000677836.1:c.1287+1G>T | ENSP00000504345.1:n.1287+1G>T | |
| ENST00000677845.1:c.*68+1G>T | ENSP00000503524.1:n.*68+1G>T | |
| ENST00000677855.1:c.1271+1G>T | ENSP00000504757.1:n.1271+1G>T | |
| ENST00000678017.1:c.701+1G>T | ENSP00000504394.1:n.701+1G>T | |
| ENST00000678138.1:n.1941+1G>T | ||
| ENST00000678156.1:n.1337+1G>T | ||
| ENST00000678216.1:n.1289+1G>T | ||
| ENST00000678318.1:c.1232+1G>T | ENSP00000503690.1:n.1232+1G>T | |
| ENST00000678345.1:c.410+1G>T | ENSP00000503668.1:n.410+1G>T | |
| ENST00000678362.1:c.*474+1G>T | ENSP00000504317.1:n.*474+1G>T | |
| ENST00000678444.1:c.1381+1G>T | ENSP00000503879.1:n.1381+1G>T | |
| ENST00000678542.1:c.1805+1G>T | ENSP00000503878.1:n.1805+1G>T | |
| ENST00000678553.1:c.1625+1G>T | ENSP00000503747.1:n.1625+1G>T | |
| ENST00000678616.1:c.1697+1G>T MANE Select | ENSP00000504733.1:n.1697+1G>T | |
| ENST00000678645.1:c.1574+1G>T | ENSP00000504031.1:n.1574+1G>T | |
| ENST00000678728.1:c.*474+1G>T | ENSP00000504830.1:n.*474+1G>T | |
| ENST00000678747.1:c.1124+1G>T | ENSP00000503390.1:n.1124+1G>T | |
| ENST00000678807.1:n.880+1G>T | ||
| ENST00000678821.1:n.2984+1G>T | ||
| ENST00000679042.1:n.2522+1G>T | ||
| ENST00000679112.1:c.*1596+1G>T | ENSP00000503739.1:n.*1596+1G>T | |
| ENST00000679226.1:c.1574+1G>T | ENSP00000503601.1:n.1574+1G>T | |
| ENST00000679274.1:n.621+1G>T | ||
| ENST00000262210.9:c.1682+1G>T | ENSP00000262210.5:n.1682+1G>T | |
| ENST00000519163.6:c.*1876+1G>T | ENSP00000428694.1:n.*1876+1G>T | |
| ENST00000519668.1:c.800+1G>T | ENSP00000430092.1:n.800+1G>T | |
| NM_001291339.1:c.800+1G>T | NP_001278268.1:n.800+1G>T | |
| NM_024790.6:c.1682+1G>T | NP_079066.5:n.1682+1G>T | |
| XM_005251305.3:c.1925+1G>T | XP_005251362.2:n.1925+1G>T | |
| XM_006716474.2:c.1925+1G>T | XP_006716537.2:n.1925+1G>T | |
| XM_006716477.2:c.1394+1G>T | XP_006716540.2:n.1394+1G>T | |
| XM_011517598.1:c.1967+1G>T | XP_011515900.1:n.1967+1G>T | |
| XM_011517599.1:c.1943+1G>T | XP_011515901.1:n.1943+1G>T | |
| XM_011517600.1:c.1901+1G>T | XP_011515902.1:n.1901+1G>T | |
| XM_011517601.1:c.1862+1G>T | XP_011515903.1:n.1862+1G>T | |
| XM_011517602.1:c.1820+1G>T | XP_011515904.1:n.1820+1G>T | |
| XM_011517603.1:c.1721+1G>T | XP_011515905.1:n.1721+1G>T | |
| XM_011517604.1:c.1721+1G>T | XP_011515906.1:n.1721+1G>T | |
| XM_011517605.1:c.1721+1G>T | XP_011515907.1:n.1721+1G>T | |
| XM_011517606.1:c.1697+1G>T | XP_011515908.1:n.1697+1G>T | |
| XM_011517607.1:c.1697+1G>T | XP_011515909.1:n.1697+1G>T | |
| XM_011517608.1:c.1616+1G>T | XP_011515910.1:n.1616+1G>T | |
| XM_011517609.1:c.842+1G>T | XP_011515911.1:n.842+1G>T | |
| XM_011517610.1:c.362+1G>T | XP_011515912.1:n.362+1G>T | |
| NM_001363131.1:c.1616+1G>T | NP_001350060.1:n.1616+1G>T | |
| NM_001363132.1:c.1655+1G>T | NP_001350061.1:n.1655+1G>T | |
| NM_001363133.1:c.1574+1G>T | NP_001350062.1:n.1574+1G>T | |
| NM_001364869.1:c.1763+1G>T | NP_001351798.1:n.1763+1G>T | |
| NM_001364870.1:c.1583+1G>T | NP_001351799.1:n.1583+1G>T | |
| XM_005251305.4:c.1925+1G>T | XP_005251362.2:n.1925+1G>T | |
| XM_006716474.3:c.1925+1G>T | XP_006716537.2:n.1925+1G>T | |
| XM_006716477.3:c.1394+1G>T | XP_006716540.2:n.1394+1G>T | |
| XM_011517598.2:c.1967+1G>T | XP_011515900.1:n.1967+1G>T | |
| XM_011517599.2:c.1943+1G>T | XP_011515901.1:n.1943+1G>T | |
| XM_011517600.2:c.1901+1G>T | XP_011515902.1:n.1901+1G>T | |
| XM_011517601.2:c.1862+1G>T | XP_011515903.1:n.1862+1G>T | |
| XM_011517602.2:c.1820+1G>T | XP_011515904.1:n.1820+1G>T | |
| XM_011517603.2:c.1721+1G>T | XP_011515905.1:n.1721+1G>T | |
| XM_011517607.2:c.1697+1G>T | XP_011515909.1:n.1697+1G>T | |
| XM_011517609.2:c.842+1G>T | XP_011515911.1:n.842+1G>T | |
| XM_017013847.2:c.1826+1G>T | XP_016869336.1:n.1826+1G>T | |
| XM_017013848.2:c.1802+1G>T | XP_016869337.1:n.1802+1G>T | |
| XM_017013849.2:c.1763+1G>T | XP_016869338.1:n.1763+1G>T | |
| XM_017013850.2:c.1721+1G>T | XP_016869339.1:n.1721+1G>T | |
| XM_017013851.2:c.1574+1G>T | XP_016869340.1:n.1574+1G>T | |
| XM_017013852.2:c.1721+1G>T | XP_016869341.1:n.1721+1G>T | |
| XM_017013854.2:c.1370+1G>T | XP_016869343.1:n.1370+1G>T | |
| XM_017013855.2:c.1289+1G>T | XP_016869344.1:n.1289+1G>T | |
| XM_017013856.2:c.1043+1G>T | XP_016869345.1:n.1043+1G>T | |
| XM_017013858.2:c.362+1G>T | XP_016869347.1:n.362+1G>T | |
| XM_024447278.1:c.1697+1G>T | XP_024303046.1:n.1697+1G>T | |
| XM_024447279.1:c.1616+1G>T | XP_024303047.1:n.1616+1G>T | |
| XM_024447281.1:c.1574+1G>T | XP_024303049.1:n.1574+1G>T | |
| XM_024447282.1:c.1124+1G>T | XP_024303050.1:n.1124+1G>T | |
| XM_024447283.1:c.800+1G>T | XP_024303051.1:n.800+1G>T | |
| XM_024447284.1:c.362+1G>T | XP_024303052.1:n.362+1G>T | |
| NM_001363131.2:c.1616+1G>T | NP_001350060.1:n.1616+1G>T | |
| NM_001363132.2:c.1655+1G>T | NP_001350061.1:n.1655+1G>T | |
| NM_001363133.2:c.1574+1G>T | NP_001350062.1:n.1574+1G>T | |
| NM_001291339.2:c.800+1G>T | NP_001278268.1:n.800+1G>T | |
| NM_001382391.1:c.1697+1G>T MANE Select | NP_001369320.1:n.1697+1G>T |