COSMIC:
COSM5095284 (not active)
COSM5095285 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004618 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00004613 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87986552G>A , CM000676.2:g.87986552G>A | GRCh38 |
| NC_000014.8:g.88452896G>A , CM000676.1:g.88452896G>A | GRCh37 |
| NC_000014.7:g.87522649G>A | NCBI36 |
| NG_011853.2:g.12012C>T | |
| NG_011853.3:g.12012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.379C>T MANE Select | ENSP00000261304.2:p.Arg127Ter | |
| ENST00000261304.6:c.379C>T | ENSP00000261304.2:p.Arg127Ter | |
| ENST00000393568.8:c.310C>T | ENSP00000377198.4:p.Arg104Ter | |
| ENST00000393569.6:c.301C>T | ENSP00000377199.2:p.Arg101Ter | |
| ENST00000474294.6:n.369C>T | ||
| ENST00000544807.6:c.211C>T | ENSP00000437513.2:p.Arg71Ter | |
| ENST00000554372.5:c.*128C>T | ENSP00000451884.1:n.*128C>T | |
| ENST00000554916.5:n.258C>T | ||
| ENST00000556261.5:n.80C>T | ||
| ENST00000556879.5:c.439C>T | ENSP00000452208.1:n.439C>T | |
| ENST00000557316.5:c.379C>T | ENSP00000452314.1:p.Arg127Ter | |
| ENST00000622264.4:c.369C>T | ||
| NM_000153.3:c.379C>T | NP_000144.2:p.Arg127Ter | |
| NM_001201401.1:c.310C>T | NP_001188330.1:p.Arg104Ter | |
| NM_001201402.1:c.301C>T | NP_001188331.1:p.Arg101Ter | |
| XM_011536618.1:c.211C>T | XP_011534920.1:p.Arg71Ter | |
| XM_011536618.2:c.211C>T | XP_011534920.1:p.Arg71Ter | |
| NM_000153.4:c.379C>T MANE Select | NP_000144.2:p.Arg127Ter | |
| NM_001201401.2:c.310C>T | NP_001188330.1:p.Arg104Ter | |
| NM_001201402.2:c.301C>T | NP_001188331.1:p.Arg101Ter |