ClinVar Variation:
COSMIC:
COSM439920
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50190072 (MID)
Genomes Max Group AF
0.49290742 (AFR)
Exomes Max Group AF
0.49947232 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703417G>A , CM000681.2:g.48703417G>A | GRCh38 |
| NC_000019.9:g.49206674G>A , CM000681.1:g.49206674G>A | GRCh37 |
| NC_000019.8:g.53898486G>A | NCBI36 |
| NG_007511.1:g.12447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.461G>A MANE Select | ENSP00000387498.2:p.Trp154Ter | |
| ENST00000522966.2:c.461G>A | ENSP00000430227.2:p.Trp154Ter | |
| ENST00000391876.5:c.461G>A | ENSP00000375748.4:p.Trp154Ter | |
| ENST00000425340.2:c.461G>A | ENSP00000387498.2:p.Trp154Ter | |
| ENST00000522966.1:c.461G>A | ENSP00000430227.1:p.Trp154Ter | |
| NM_000511.5:c.461G>A | NP_000502.4:p.Trp154Ter | |
| NM_001097638.2:c.461G>A | NP_001091107.1:p.Trp154Ter | |
| NR_131188.1:n.432C>T | ||
| NM_000511.6:c.461G>A MANE Select | NP_000502.4:p.Trp154Ter | |
| NM_001097638.3:c.461G>A | NP_001091107.1:p.Trp154Ter |