ClinVar Variation:
COSMIC:
COSM4656777
COSM4656778
COSM4656779
COSM4656780
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00429344 (MID)
Genomes Max Group AF
0.00131743 (NFE)
Exomes Max Group AF
0.00404203 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402692G>A , CM000679.2:g.77402692G>A | GRCh38 |
| NC_000017.10:g.75398774G>A , CM000679.1:g.75398774G>A | GRCh37 |
| NC_000017.9:g.72910369G>A | NCBI36 |
| NG_011683.1:g.126283G>A | |
| NG_011683.2:g.126283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.656G>A MANE Plus Clinical | ENSP00000329161.8:p.Arg219Gln | |
| ENST00000427177.6:c.710G>A MANE Select | ENSP00000391249.1:p.Arg237Gln | |
| ENST00000588690.6:c.218G>A | ENSP00000468668.1:p.Arg73Gln | |
| ENST00000590294.6:n.759G>A | ||
| ENST00000329047.12:c.656G>A | ENSP00000329161.8:p.Arg219Gln | |
| ENST00000423034.6:c.689G>A | ENSP00000405877.1:p.Arg230Gln | |
| ENST00000427177.5:c.710G>A | ENSP00000391249.1:p.Arg237Gln | |
| ENST00000427674.6:c.218G>A | ENSP00000403194.1:p.Arg73Gln | |
| ENST00000431235.6:c.218G>A | ENSP00000406987.2:p.Arg73Gln | |
| ENST00000449803.6:c.218G>A | ENSP00000400181.2:p.Arg73Gln | |
| ENST00000588575.1:c.195+197G>A | ENSP00000468090.1:n.195+197G>A | |
| ENST00000588690.5:c.218G>A | ENSP00000468668.1:p.Arg73Gln | |
| ENST00000590059.5:c.161G>A | ENSP00000466164.1:p.Arg54Gln | |
| ENST00000590294.5:c.656G>A | ENSP00000465464.1:p.Arg219Gln | |
| ENST00000590595.1:c.392G>A | ENSP00000465026.1:p.Arg131Gln | |
| ENST00000591198.5:c.653G>A | ENSP00000468406.1:p.Arg218Gln | |
| ENST00000592420.1:c.137G>A | ENSP00000467051.1:p.Arg46Gln | |
| NM_001113491.1:c.710G>A | NP_001106963.1:p.Arg237Gln | |
| NM_001113492.1:c.218G>A | NP_001106964.1:p.Arg73Gln | |
| NM_001113493.1:c.689G>A | NP_001106965.1:p.Arg230Gln | |
| NM_001113494.1:c.218G>A | NP_001106966.1:p.Arg73Gln | |
| NM_001293695.1:c.653G>A | NP_001280624.1:p.Arg218Gln | |
| NM_006640.4:c.656G>A | NP_006631.2:p.Arg219Gln | |
| XM_006721643.2:c.218G>A | XP_006721706.1:p.Arg73Gln | |
| XM_011524204.1:c.803G>A | XP_011522506.1:p.Arg268Gln | |
| XM_011524205.1:c.800G>A | XP_011522507.1:p.Arg267Gln | |
| XM_011524206.1:c.665G>A | XP_011522508.1:p.Arg222Gln | |
| XM_011524207.1:c.218G>A | XP_011522509.1:p.Arg73Gln | |
| NM_001113491.2:c.710G>A MANE Select | NP_001106963.1:p.Arg237Gln | |
| NM_001113493.2:c.689G>A | NP_001106965.1:p.Arg230Gln | |
| NM_001293695.2:c.653G>A | NP_001280624.1:p.Arg218Gln | |
| NM_001113492.2:c.218G>A | NP_001106964.1:p.Arg73Gln | |
| NM_006640.5:c.656G>A MANE Plus Clinical | NP_006631.2:p.Arg219Gln |