COSMIC:
COSM1129842 (not active)
Revel Score:
ENST00000324071 (MANE Select)
0.208
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09389188 (MID)
Genomes Max Group AF
0.0520603 (NFE)
Exomes Max Group AF
0.09331701 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40991369C>T , CM000681.2:g.40991369C>T | GRCh38 |
| NC_000019.9:g.41497274C>T , CM000681.1:g.41497274C>T | GRCh37 |
| NC_000019.8:g.46189114C>T | NCBI36 |
| NG_007929.1:g.5071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.64C>T MANE Select | ENSP00000324648.2:p.Arg22Cys | |
| ENST00000324071.8:c.64C>T | ENSP00000324648.2:p.Arg22Cys | |
| NM_000767.4:c.64C>T | NP_000758.1:p.Arg22Cys | |
| XM_005258569.3:c.64C>T | XP_005258626.1:p.Arg22Cys | |
| XM_006723050.2:c.64C>T | XP_006723113.1:p.Arg22Cys | |
| XM_011526546.1:c.64C>T | XP_011524848.1:p.Arg22Cys | |
| XM_011526547.1:c.64C>T | XP_011524849.1:p.Arg22Cys | |
| XM_011526548.1:c.64C>T | XP_011524850.1:p.Arg22Cys | |
| NM_000767.5:c.64C>T MANE Select | NP_000758.1:p.Arg22Cys |