COSMIC:
COSM4762775 (not active)
COSM4762776 (not active)
COSM4762777 (not active)
COSM4762778 (not active)
COSM4762779 (not active)
Revel Score:
ENST00000367255 (MANE Select)
0.016
ENST00000423061
0.016
ENST00000265368
0.016
ENST00000448038
0.016
ENST00000341594
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00054761 (NFE)
Genomes Max Group AF
0.00048176 (NFE)
Exomes Max Group AF
0.00054328 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152339242G>A , CM000668.2:g.152339242G>A | GRCh38 |
| NC_000006.11:g.152660377G>A , CM000668.1:g.152660377G>A | GRCh37 |
| NC_000006.10:g.152702070G>A | NCBI36 |
| NG_012855.1:g.303158C>T | |
| NG_012855.2:g.303158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.12350C>T MANE Select | ENSP00000356224.5:p.Thr4117Met | |
| ENST00000423061.6:c.12137C>T | ENSP00000396024.1:p.Thr4046Met | |
| ENST00000341594.9:c.11894C>T | ENSP00000341887.6:p.Thr3965Met | |
| ENST00000367255.9:c.12350C>T | ENSP00000356224.5:p.Thr4117Met | |
| ENST00000423061.5:c.12137C>T | ENSP00000396024.1:p.Thr4046Met | |
| ENST00000471834.1:n.5488C>T | ||
| NM_033071.3:c.12137C>T | NP_149062.1:p.Thr4046Met | |
| NM_182961.3:c.12350C>T | NP_892006.3:p.Thr4117Met | |
| XM_006715407.1:c.12371C>T | XP_006715470.1:p.Thr4124Met | |
| XM_006715408.1:c.12371C>T | XP_006715471.1:p.Thr4124Met | |
| XM_006715409.1:c.12350C>T | XP_006715472.1:p.Thr4117Met | |
| XM_006715410.1:c.12371C>T | XP_006715473.1:p.Thr4124Met | |
| XM_006715411.1:c.12320C>T | XP_006715474.1:p.Thr4107Met | |
| XM_006715412.1:c.12371C>T | XP_006715475.1:p.Thr4124Met | |
| XM_006715413.1:c.12371C>T | XP_006715476.1:p.Thr4124Met | |
| XM_006715414.1:c.12299C>T | XP_006715477.1:p.Thr4100Met | |
| XM_006715415.1:c.12371C>T | XP_006715478.1:p.Thr4124Met | |
| XM_006715416.1:c.12371C>T | XP_006715479.1:p.Thr4124Met | |
| XM_006715417.1:c.12371C>T | XP_006715480.1:p.Thr4124Met | |
| XM_006715420.1:c.12371C>T | XP_006715483.1:p.Thr4124Met | |
| XM_006715421.1:c.12215C>T | XP_006715484.1:p.Thr4072Met | |
| XM_006715422.1:c.12212C>T | XP_006715485.1:p.Thr4071Met | |
| XM_006715423.1:c.12371C>T | XP_006715486.1:p.Thr4124Met | |
| XM_006715424.1:c.12371C>T | XP_006715487.1:p.Thr4124Met | |
| XM_006715425.1:c.12371C>T | XP_006715488.1:p.Thr4124Met | |
| XM_011535641.1:c.12371C>T | XP_011533943.1:p.Thr4124Met | |
| XM_011535642.1:c.12371C>T | XP_011533944.1:p.Thr4124Met | |
| XM_011535643.1:c.12206C>T | XP_011533945.1:p.Thr4069Met | |
| XM_011535644.1:c.10646C>T | XP_011533946.1:p.Thr3549Met | |
| XM_011535645.1:c.10139C>T | XP_011533947.1:p.Thr3380Met | |
| XM_011535646.1:c.12371C>T | XP_011533948.1:p.Thr4124Met | |
| XM_011535647.1:c.5606C>T | XP_011533949.1:p.Thr1869Met | |
| XM_006715408.2:c.12371C>T | XP_006715471.1:p.Thr4124Met | |
| XM_006715410.2:c.12371C>T | XP_006715473.1:p.Thr4124Met | |
| XM_006715412.2:c.12371C>T | XP_006715475.1:p.Thr4124Met | |
| XM_006715413.2:c.12371C>T | XP_006715476.1:p.Thr4124Met | |
| XM_006715415.2:c.12371C>T | XP_006715478.1:p.Thr4124Met | |
| XM_006715416.2:c.12371C>T | XP_006715479.1:p.Thr4124Met | |
| XM_006715417.2:c.12371C>T | XP_006715480.1:p.Thr4124Met | |
| XM_006715420.2:c.12371C>T | XP_006715483.1:p.Thr4124Met | |
| XM_006715421.2:c.12215C>T | XP_006715484.1:p.Thr4072Met | |
| XM_006715423.2:c.12371C>T | XP_006715486.1:p.Thr4124Met | |
| XM_006715424.2:c.12371C>T | XP_006715487.1:p.Thr4124Met | |
| XM_006715425.2:c.12371C>T | XP_006715488.1:p.Thr4124Met | |
| XM_011535641.2:c.12371C>T | XP_011533943.1:p.Thr4124Met | |
| XM_011535642.2:c.12371C>T | XP_011533944.1:p.Thr4124Met | |
| XM_011535645.2:c.10139C>T | XP_011533947.1:p.Thr3380Met | |
| XM_017010608.1:c.12371C>T | XP_016866097.1:p.Thr4124Met | |
| XM_017010609.1:c.12371C>T | XP_016866098.1:p.Thr4124Met | |
| XM_017010610.1:c.12350C>T | XP_016866099.1:p.Thr4117Met | |
| XM_017010611.2:c.12344C>T | XP_016866100.1:p.Thr4115Met | |
| XM_017010612.1:c.12293C>T | XP_016866101.1:p.Thr4098Met | |
| XM_017010613.1:c.12371C>T | XP_016866102.1:p.Thr4124Met | |
| XM_017010614.1:c.12371C>T | XP_016866103.1:p.Thr4124Met | |
| XM_017010615.1:c.12371C>T | XP_016866104.1:p.Thr4124Met | |
| XM_017010616.1:c.12371C>T | XP_016866105.1:p.Thr4124Met | |
| XM_017010617.1:c.12371C>T | XP_016866106.1:p.Thr4124Met | |
| XM_017010618.1:c.12371C>T | XP_016866107.1:p.Thr4124Met | |
| XM_017010619.1:c.10646C>T | XP_016866108.1:p.Thr3549Met | |
| XR_001743287.1:n.12854C>T | ||
| NM_182961.4:c.12350C>T MANE Select | NP_892006.3:p.Thr4117Met | |
| NM_033071.5:c.12137C>T | NP_149062.2:p.Thr4046Met |