COSMIC:
COSM4407399 (not active)
COSM4407400 (not active)
Revel Score:
ENST00000446378 (MANE Select)
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52709132 (AFR)
Genomes Max Group AF
0.51429192 (AFR)
Exomes Max Group AF
0.53904285 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79728956A>G , CM000667.2:g.79728956A>G | GRCh38 |
| NC_000005.9:g.79024779A>G , CM000667.1:g.79024779A>G | GRCh37 |
| NC_000005.8:g.79060535A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446378.3:c.191A>G MANE Select | ENSP00000394770.2:p.Tyr64Cys | |
| ENST00000446378.2:c.191A>G | ENSP00000394770.2:p.Tyr64Cys | |
| NM_153610.4:c.191A>G | NP_705838.3:p.Tyr64Cys | |
| XR_948242.1:n.263A>G | ||
| XM_017009212.1:c.-26A>G | XP_016864701.1:n.-26A>G | |
| XR_001742036.2:n.392A>G | ||
| XR_948242.2:n.392A>G | ||
| NM_153610.5:c.191A>G MANE Select | NP_705838.3:p.Tyr64Cys |