COSMIC:
COSM5009671 (not active)
Revel Score:
ENST00000340094
0.040
ENST00000535648
0.040
ENST00000346706
0.040
ENST00000345230
0.040
ENST00000350763 (MANE Select)
0.040
ENST00000341037
0.040
ENST00000423613
0.040
ENST00000537320
0.040
ENST00000542877
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15314075 (NFE)
Genomes Max Group AF
0.15346026 (NFE)
Exomes Max Group AF
0.15298809 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115073620C>T , CM000671.2:g.115073620C>T | GRCh38 |
| NC_000009.11:g.117835899C>T , CM000671.1:g.117835899C>T | GRCh37 |
| NC_000009.10:g.116875720C>T | NCBI36 |
| NG_029637.1:g.49638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537320.6:c.3197G>A | ENSP00000443478.1:p.Arg1066His | |
| ENST00000542877.6:c.3197G>A | ENSP00000442242.1:p.Arg1066His | |
| ENST00000705191.1:c.161G>A | ENSP00000516084.1:p.Arg54His | |
| ENST00000705192.1:c.2428G>A | ||
| ENST00000350763.9:c.3197G>A MANE Select | ENSP00000265131.4:p.Arg1066His | |
| ENST00000341037.8:c.3197G>A | ENSP00000339553.4:p.Arg1066His | |
| ENST00000350763.8:c.3197G>A | ENSP00000265131.4:p.Arg1066His | |
| ENST00000423613.6:c.3197G>A | ENSP00000411406.2:p.Arg1066His | |
| ENST00000473855.1:n.153G>A | ||
| ENST00000498724.5:n.22G>A | ||
| ENST00000535648.5:c.3197G>A | ENSP00000438152.2:p.Arg1066His | |
| ENST00000537320.5:c.3197G>A | ENSP00000443478.1:p.Arg1066His | |
| ENST00000542877.5:c.3197G>A | ENSP00000442242.1:p.Arg1066His | |
| NM_002160.3:c.3197G>A | NP_002151.2:p.Arg1066His | |
| XM_005251972.2:c.3197G>A | XP_005252029.1:p.Arg1066His | |
| XM_005251973.2:c.3197G>A | XP_005252030.1:p.Arg1066His | |
| XM_005251974.2:c.3197G>A | XP_005252031.1:p.Arg1066His | |
| XM_005251975.2:c.3197G>A | XP_005252032.1:p.Arg1066His | |
| XM_006717096.2:c.3197G>A | XP_006717159.1:p.Arg1066His | |
| XM_006717097.2:c.3197G>A | XP_006717160.1:p.Arg1066His | |
| XM_006717098.2:c.3197G>A | XP_006717161.1:p.Arg1066His | |
| XM_006717100.2:c.3197G>A | XP_006717163.1:p.Arg1066His | |
| XM_006717101.2:c.3197G>A | XP_006717164.1:p.Arg1066His | |
| XM_011518622.1:c.3197G>A | XP_011516924.1:p.Arg1066His | |
| XM_011518623.1:c.3197G>A | XP_011516925.1:p.Arg1066His | |
| XM_011518624.1:c.3197G>A | XP_011516926.1:p.Arg1066His | |
| XM_011518625.1:c.3197G>A | XP_011516927.1:p.Arg1066His | |
| XM_011518626.1:c.3197G>A | XP_011516928.1:p.Arg1066His | |
| XM_011518627.1:c.3197G>A | XP_011516929.1:p.Arg1066His | |
| XM_011518628.1:c.3197G>A | XP_011516930.1:p.Arg1066His | |
| XM_011518629.1:c.3197G>A | XP_011516931.1:p.Arg1066His | |
| XM_011518630.1:c.3197G>A | XP_011516932.1:p.Arg1066His | |
| XM_005251972.4:c.3197G>A | XP_005252029.1:p.Arg1066His | |
| XM_005251973.4:c.3197G>A | XP_005252030.1:p.Arg1066His | |
| XM_005251974.4:c.3197G>A | XP_005252031.1:p.Arg1066His | |
| XM_005251975.4:c.3197G>A | XP_005252032.1:p.Arg1066His | |
| XM_006717096.4:c.3197G>A | XP_006717159.1:p.Arg1066His | |
| XM_006717097.4:c.3197G>A | XP_006717160.1:p.Arg1066His | |
| XM_006717098.4:c.3197G>A | XP_006717161.1:p.Arg1066His | |
| XM_006717101.4:c.3197G>A | XP_006717164.1:p.Arg1066His | |
| XM_011518625.3:c.3197G>A | XP_011516927.1:p.Arg1066His | |
| XM_011518626.3:c.3197G>A | XP_011516928.1:p.Arg1066His | |
| XM_011518628.3:c.3197G>A | XP_011516930.1:p.Arg1066His | |
| XM_011518629.3:c.3197G>A | XP_011516931.1:p.Arg1066His | |
| XM_017014678.2:c.3197G>A | XP_016870167.1:p.Arg1066His | |
| XM_017014679.2:c.3197G>A | XP_016870168.1:p.Arg1066His | |
| XM_017014680.2:c.3197G>A | XP_016870169.1:p.Arg1066His | |
| XM_017014681.2:c.3197G>A | XP_016870170.1:p.Arg1066His | |
| XM_024447530.1:c.3197G>A | XP_024303298.1:p.Arg1066His | |
| NM_002160.4:c.3197G>A MANE Select | NP_002151.2:p.Arg1066His |