COSMIC:
COSN513251 (not active)
COSN6668691 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80680106 (EAS)
Genomes Max Group AF
0.79363361 (EAS)
Exomes Max Group AF
0.80617184 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.406934C>A , CM000681.2:g.406934C>A | GRCh38 |
| NC_000019.9:g.406934C>A , CM000681.1:g.406934C>A | GRCh37 |
| NC_000019.8:g.357934C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332235.8:c.*162G>T MANE Select | ENSP00000328677.4:n.*162G>T | |
| ENST00000332235.7:c.*162G>T | ENSP00000328677.4:n.*162G>T | |
| NM_001136263.1:c.*162G>T | NP_001129735.1:n.*162G>T | |
| XM_011527694.1:c.1179+249G>T | XP_011525996.1:n.1179+249G>T | |
| NM_001136263.2:c.*162G>T MANE Select | NP_001129735.1:n.*162G>T |