COSMIC:
COSM5510701 (not active)
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000695 (NFE)
Exomes Max Group AF
0.00000738 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74555629G>A , CM000676.2:g.74555629G>A | GRCh38 |
| NC_000014.8:g.75022332G>A , CM000676.1:g.75022332G>A | GRCh37 |
| NC_000014.7:g.74092085G>A | NCBI36 |
| NG_021486.1:g.61703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.895C>T MANE Select | ENSP00000261978.4:p.Arg299Ter | |
| ENST00000261978.8:c.895C>T | ENSP00000261978.4:p.Arg299Ter | |
| ENST00000553939.5:c.895C>T | ENSP00000452110.1:p.Arg299Ter | |
| ENST00000556690.5:c.895C>T | ENSP00000451477.1:p.Arg299Ter | |
| ENST00000557425.1:n.124-4279C>T | ||
| NM_000428.2:c.895C>T | NP_000419.1:p.Arg299Ter | |
| XM_011536765.1:c.895C>T | XP_011535067.1:p.Arg299Ter | |
| XM_011536766.1:c.436C>T | XP_011535068.1:p.Arg146Ter | |
| XM_011536767.1:c.412C>T | XP_011535069.1:p.Arg138Ter | |
| XM_011536765.2:c.895C>T | XP_011535067.1:p.Arg299Ter | |
| NM_000428.3:c.895C>T MANE Select | NP_000419.1:p.Arg299Ter |