COSMIC:
COSM4985332 (not active)
Revel Score:
ENST00000336411
0.081
ENST00000544160
0.081
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02646498 (AFR)
Genomes Max Group AF
0.02621221 (AFR)
Exomes Max Group AF
0.02587578 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769804C>T , CM000669.2:g.99769804C>T | GRCh38 |
| NC_000007.13:g.99367427C>T , CM000669.1:g.99367427C>T | GRCh37 |
| NC_000007.12:g.99205363C>T | NCBI36 |
| NG_008421.1:g.19382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.485G>A | ENSP00000337915.3:p.Arg162Gln | |
| ENST00000651514.1:c.485G>A MANE Select | ENSP00000498939.1:p.Arg162Gln | |
| ENST00000651783.1:c.58-1297G>A | ENSP00000498924.1:n.58-1297G>A | |
| ENST00000652018.1:c.338G>A | ENSP00000498733.1:p.Arg113Gln | |
| ENST00000336411.6:c.485G>A | ENSP00000337915.2:p.Arg162Gln | |
| ENST00000354593.6:c.72-1302G>A | ENSP00000346607.2:n.72-1302G>A | |
| ENST00000480043.1:n.382G>A | ||
| NM_001202855.2:c.485G>A | NP_001189784.1:p.Arg162Gln | |
| NM_017460.5:c.485G>A | NP_059488.2:p.Arg162Gln | |
| XM_011515841.1:c.485G>A | XP_011514143.1:p.Arg162Gln | |
| XM_011515842.1:c.485G>A | XP_011514144.1:p.Arg162Gln | |
| NM_017460.6:c.485G>A MANE Select | NP_059488.2:p.Arg162Gln | |
| NM_001202855.3:c.485G>A | NP_001189784.1:p.Arg162Gln |