COSMIC:
COSM3766398 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83805312 (EAS)
Genomes Max Group AF
0.82874651 (EAS)
Exomes Max Group AF
0.83701337 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703346C>T , CM000681.2:g.48703346C>T | GRCh38 |
| NC_000019.9:g.49206603C>T , CM000681.1:g.49206603C>T | GRCh37 |
| NC_000019.8:g.53898415C>T | NCBI36 |
| NG_007511.1:g.12376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.390C>T MANE Select | ENSP00000387498.2:p.Asn130= | |
| ENST00000522966.2:c.390C>T | ENSP00000430227.2:p.Asn130= | |
| ENST00000391876.5:c.390C>T | ENSP00000375748.4:p.Asn130= | |
| ENST00000425340.2:c.390C>T | ENSP00000387498.2:p.Asn130= | |
| ENST00000522966.1:c.390C>T | ENSP00000430227.1:p.Asn130= | |
| NM_000511.5:c.390C>T | NP_000502.4:p.Asn130= | |
| NM_001097638.2:c.390C>T | NP_001091107.1:p.Asn130= | |
| NR_131188.1:n.503G>A | ||
| NM_000511.6:c.390C>T MANE Select | NP_000502.4:p.Asn130= | |
| NM_001097638.3:c.390C>T | NP_001091107.1:p.Asn130= |