Linked Data
dbSNP Id:
rs192680178
ExAC:
10:123247674 G / A
gnomAD v2:
10-123247674-G-A
gnomAD v3:
10-121488160-G-A
gnomAD v4:
10-121488160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121488160G>A , CM000672.2:g.121488160G>A | GRCh38 |
| NC_000010.10:g.123247674G>A , CM000672.1:g.123247674G>A | GRCh37 |
| NC_000010.9:g.123237664G>A | NCBI36 |
| NG_012449.1:g.115299C>T | |
| NG_012449.2:g.115299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1867-47C>T MANE Plus Clinical | ENSP00000410294.2:n.1867-47C>T | |
| ENST00000351936.11:c.1858-47C>T | ENSP00000309878.10:n.1858-47C>T | |
| ENST00000638709.2:c.688-47C>T | ENSP00000491912.2:n.688-47C>T | |
| ENST00000682296.1:n.1206-47C>T | ||
| ENST00000682550.1:c.1513-47C>T | ENSP00000507633.1:n.1513-47C>T | |
| ENST00000682772.1:c.688-47C>T | ENSP00000506848.1:n.688-47C>T | |
| ENST00000682904.1:n.684-47C>T | ||
| ENST00000683029.1:n.276-47C>T | ||
| ENST00000683211.1:c.1858-47C>T | ENSP00000508257.1:n.1858-47C>T | |
| ENST00000683250.1:c.*566-47C>T | ENSP00000506847.1:n.*566-47C>T | |
| ENST00000683418.1:n.4205-47C>T | ||
| ENST00000684153.1:c.1513-47C>T | ENSP00000506937.1:n.1513-47C>T | |
| ENST00000684516.1:n.2877-47C>T | ||
| ENST00000358487.10:c.1864-47C>T MANE Select | ENSP00000351276.6:n.1864-47C>T | |
| ENST00000336553.10:c.1591-47C>T | ENSP00000337665.6:n.1591-47C>T | |
| ENST00000346997.6:c.1858-47C>T | ENSP00000263451.5:n.1858-47C>T | |
| ENST00000351936.10:c.1864-47C>T | ENSP00000309878.9:n.1864-47C>T | |
| ENST00000356226.8:c.1513-47C>T | ENSP00000348559.4:n.1513-47C>T | |
| ENST00000357555.9:c.1597-47C>T | ENSP00000350166.5:n.1597-47C>T | |
| ENST00000358487.9:c.1864-47C>T | ENSP00000351276.5:n.1864-47C>T | |
| ENST00000360144.7:c.1600-47C>T | ENSP00000353262.3:n.1600-47C>T | |
| ENST00000369056.5:c.1867-47C>T | ENSP00000358052.1:n.1867-47C>T | |
| ENST00000369058.7:c.1867-47C>T | ENSP00000358054.3:n.1867-47C>T | |
| ENST00000369059.5:c.1522-47C>T | ENSP00000358055.1:n.1522-47C>T | |
| ENST00000369060.8:c.1516-47C>T | ENSP00000358056.4:n.1516-47C>T | |
| ENST00000369061.8:c.1528-47C>T | ENSP00000358057.4:n.1528-47C>T | |
| ENST00000429361.5:c.640-47C>T | ENSP00000404219.1:n.640-47C>T | |
| ENST00000457416.6:c.1867-47C>T | ENSP00000410294.2:n.1867-47C>T | |
| ENST00000478859.5:c.1180-47C>T | ENSP00000474011.1:n.1180-47C>T | |
| ENST00000604236.5:c.*911-47C>T | ENSP00000474109.1:n.*911-47C>T | |
| ENST00000613048.4:c.1597-47C>T | ENSP00000484154.1:n.1597-47C>T | |
| NM_000141.4:c.1864-47C>T | NP_000132.3:n.1864-47C>T | |
| NM_001144913.1:c.1867-47C>T | NP_001138385.1:n.1867-47C>T | |
| NM_001144914.1:c.1528-47C>T | NP_001138386.1:n.1528-47C>T | |
| NM_001144915.1:c.1597-47C>T | NP_001138387.1:n.1597-47C>T | |
| NM_001144916.1:c.1519-47C>T | NP_001138388.1:n.1519-47C>T | |
| NM_001144917.1:c.1516-47C>T | NP_001138389.1:n.1516-47C>T | |
| NM_001144918.1:c.1513-47C>T | NP_001138390.1:n.1513-47C>T | |
| NM_001144919.1:c.1600-47C>T | NP_001138391.1:n.1600-47C>T | |
| NM_022970.3:c.1867-47C>T | NP_075259.4:n.1867-47C>T | |
| NM_023029.2:c.1597-47C>T | NP_075418.1:n.1597-47C>T | |
| NR_073009.1:n.2314-47C>T | ||
| XM_006717708.2:c.1918-47C>T | XP_006717771.1:n.1918-47C>T | |
| XM_006717709.2:c.1915-47C>T | XP_006717772.1:n.1915-47C>T | |
| XM_006717710.2:c.1924-47C>T | XP_006717773.1:n.1924-47C>T | |
| XM_006717711.2:c.1657-47C>T | XP_006717774.1:n.1657-47C>T | |
| XM_006717712.2:c.1579-47C>T | XP_006717775.1:n.1579-47C>T | |
| XM_006717713.2:c.1921-47C>T | XP_006717776.1:n.1921-47C>T | |
| XM_011539510.1:c.1180-47C>T | XP_011537812.1:n.1180-47C>T | |
| NM_001320654.1:c.1180-47C>T | NP_001307583.1:n.1180-47C>T | |
| NM_001320658.1:c.1858-47C>T | NP_001307587.1:n.1858-47C>T | |
| XM_006717708.3:c.1918-47C>T | XP_006717771.1:n.1918-47C>T | |
| XM_006717710.4:c.1924-47C>T | XP_006717773.1:n.1924-47C>T | |
| XM_017015920.2:c.1918-47C>T | XP_016871409.1:n.1918-47C>T | |
| XM_017015921.2:c.1915-47C>T | XP_016871410.1:n.1915-47C>T | |
| XM_017015924.2:c.1576-47C>T | XP_016871413.1:n.1576-47C>T | |
| XM_017015925.2:c.1570-47C>T | XP_016871414.1:n.1570-47C>T | |
| XM_024447887.1:c.1654-47C>T | XP_024303655.1:n.1654-47C>T | |
| XM_024447888.1:c.1651-47C>T | XP_024303656.1:n.1651-47C>T | |
| XM_024447889.1:c.1648-47C>T | XP_024303657.1:n.1648-47C>T | |
| XM_024447890.1:c.1657-47C>T | XP_024303658.1:n.1657-47C>T | |
| XM_024447891.1:c.1579-47C>T | XP_024303659.1:n.1579-47C>T | |
| XM_024447892.1:c.694-47C>T | XP_024303660.1:n.694-47C>T | |
| NM_000141.5:c.1864-47C>T MANE Select | NP_000132.3:n.1864-47C>T | |
| NM_001144917.2:c.1516-47C>T | NP_001138389.1:n.1516-47C>T | |
| NM_001144918.2:c.1513-47C>T | NP_001138390.1:n.1513-47C>T | |
| NM_001144919.2:c.1600-47C>T | NP_001138391.1:n.1600-47C>T | |
| NM_001320658.2:c.1858-47C>T | NP_001307587.1:n.1858-47C>T | |
| NR_073009.2:n.2300-47C>T | ||
| NM_001144915.2:c.1597-47C>T | NP_001138387.1:n.1597-47C>T | |
| NM_001144916.2:c.1519-47C>T | NP_001138388.1:n.1519-47C>T | |
| NM_001320654.2:c.1180-47C>T | NP_001307583.1:n.1180-47C>T |