Linked Data
ClinVar Variation Id:
255316
ClinVar RCV Id:
RCV000254345
RCV000263901
RCV000288712
RCV000334154
RCV000387358
RCV000387725
RCV000526022
RCV001812674
dbSNP Id:
rs35337478
ExAC:
10:123247550 G / A
gnomAD v2:
10-123247550-G-A
gnomAD v3:
10-121488036-G-A
gnomAD v4:
10-121488036-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121488036G>A , CM000672.2:g.121488036G>A | GRCh38 |
| NC_000010.10:g.123247550G>A , CM000672.1:g.123247550G>A | GRCh37 |
| NC_000010.9:g.123237540G>A | NCBI36 |
| NG_012449.1:g.115423C>T | |
| NG_012449.2:g.115423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1944C>T MANE Plus Clinical | ENSP00000410294.2:p.Leu648= | |
| ENST00000351936.11:c.1935C>T | ENSP00000309878.10:p.Leu645= | |
| ENST00000638709.2:c.765C>T | ENSP00000491912.2:p.Leu255= | |
| ENST00000682296.1:n.1283C>T | ||
| ENST00000682550.1:c.1590C>T | ENSP00000507633.1:p.Leu530= | |
| ENST00000682772.1:c.765C>T | ENSP00000506848.1:p.Leu255= | |
| ENST00000682904.1:n.761C>T | ||
| ENST00000683029.1:n.353C>T | ||
| ENST00000683211.1:c.1935C>T | ENSP00000508257.1:p.Leu645= | |
| ENST00000683250.1:c.*643C>T | ENSP00000506847.1:n.*643C>T | |
| ENST00000683418.1:n.4282C>T | ||
| ENST00000684153.1:c.1590C>T | ENSP00000506937.1:p.Leu530= | |
| ENST00000684516.1:n.2954C>T | ||
| ENST00000358487.10:c.1941C>T MANE Select | ENSP00000351276.6:p.Leu647= | |
| ENST00000336553.10:c.1668C>T | ENSP00000337665.6:p.Leu556= | |
| ENST00000346997.6:c.1935C>T | ENSP00000263451.5:p.Leu645= | |
| ENST00000351936.10:c.1941C>T | ENSP00000309878.9:p.Leu647= | |
| ENST00000356226.8:c.1590C>T | ENSP00000348559.4:p.Leu530= | |
| ENST00000357555.9:c.1674C>T | ENSP00000350166.5:p.Leu558= | |
| ENST00000358487.9:c.1941C>T | ENSP00000351276.5:p.Leu647= | |
| ENST00000360144.7:c.1677C>T | ENSP00000353262.3:p.Leu559= | |
| ENST00000369056.5:c.1944C>T | ENSP00000358052.1:p.Leu648= | |
| ENST00000369058.7:c.1944C>T | ENSP00000358054.3:p.Leu648= | |
| ENST00000369059.5:c.1599C>T | ENSP00000358055.1:p.Leu533= | |
| ENST00000369060.8:c.1593C>T | ENSP00000358056.4:p.Leu531= | |
| ENST00000369061.8:c.1605C>T | ENSP00000358057.4:p.Leu535= | |
| ENST00000429361.5:c.717C>T | ENSP00000404219.1:p.Leu239= | |
| ENST00000457416.6:c.1944C>T | ENSP00000410294.2:p.Leu648= | |
| ENST00000478859.5:c.1257C>T | ENSP00000474011.1:p.Leu419= | |
| ENST00000604236.5:c.*988C>T | ENSP00000474109.1:n.*988C>T | |
| ENST00000613048.4:c.1674C>T | ENSP00000484154.1:p.Leu558= | |
| NM_000141.4:c.1941C>T | NP_000132.3:p.Leu647= | |
| NM_001144913.1:c.1944C>T | NP_001138385.1:p.Leu648= | |
| NM_001144914.1:c.1605C>T | NP_001138386.1:p.Leu535= | |
| NM_001144915.1:c.1674C>T | NP_001138387.1:p.Leu558= | |
| NM_001144916.1:c.1596C>T | NP_001138388.1:p.Leu532= | |
| NM_001144917.1:c.1593C>T | NP_001138389.1:p.Leu531= | |
| NM_001144918.1:c.1590C>T | NP_001138390.1:p.Leu530= | |
| NM_001144919.1:c.1677C>T | NP_001138391.1:p.Leu559= | |
| NM_022970.3:c.1944C>T | NP_075259.4:p.Leu648= | |
| NM_023029.2:c.1674C>T | NP_075418.1:p.Leu558= | |
| NR_073009.1:n.2391C>T | ||
| XM_006717708.2:c.1995C>T | XP_006717771.1:p.Leu665= | |
| XM_006717709.2:c.1992C>T | XP_006717772.1:p.Leu664= | |
| XM_006717710.2:c.2001C>T | XP_006717773.1:p.Leu667= | |
| XM_006717711.2:c.1734C>T | XP_006717774.1:p.Leu578= | |
| XM_006717712.2:c.1656C>T | XP_006717775.1:p.Leu552= | |
| XM_006717713.2:c.1998C>T | XP_006717776.1:p.Leu666= | |
| XM_011539510.1:c.1257C>T | XP_011537812.1:p.Leu419= | |
| NM_001320654.1:c.1257C>T | NP_001307583.1:p.Leu419= | |
| NM_001320658.1:c.1935C>T | NP_001307587.1:p.Leu645= | |
| XM_006717708.3:c.1995C>T | XP_006717771.1:p.Leu665= | |
| XM_006717710.4:c.2001C>T | XP_006717773.1:p.Leu667= | |
| XM_017015920.2:c.1995C>T | XP_016871409.1:p.Leu665= | |
| XM_017015921.2:c.1992C>T | XP_016871410.1:p.Leu664= | |
| XM_017015924.2:c.1653C>T | XP_016871413.1:p.Leu551= | |
| XM_017015925.2:c.1647C>T | XP_016871414.1:p.Leu549= | |
| XM_024447887.1:c.1731C>T | XP_024303655.1:p.Leu577= | |
| XM_024447888.1:c.1728C>T | XP_024303656.1:p.Leu576= | |
| XM_024447889.1:c.1725C>T | XP_024303657.1:p.Leu575= | |
| XM_024447890.1:c.1734C>T | XP_024303658.1:p.Leu578= | |
| XM_024447891.1:c.1656C>T | XP_024303659.1:p.Leu552= | |
| XM_024447892.1:c.771C>T | XP_024303660.1:p.Leu257= | |
| NM_000141.5:c.1941C>T MANE Select | NP_000132.3:p.Leu647= | |
| NM_001144917.2:c.1593C>T | NP_001138389.1:p.Leu531= | |
| NM_001144918.2:c.1590C>T | NP_001138390.1:p.Leu530= | |
| NM_001144919.2:c.1677C>T | NP_001138391.1:p.Leu559= | |
| NM_001320658.2:c.1935C>T | NP_001307587.1:p.Leu645= | |
| NR_073009.2:n.2377C>T | ||
| NM_001144915.2:c.1674C>T | NP_001138387.1:p.Leu558= | |
| NM_001144916.2:c.1596C>T | NP_001138388.1:p.Leu532= | |
| NM_001320654.2:c.1257C>T | NP_001307583.1:p.Leu419= |