COSMIC:
COSM4415921 (not active)
Revel Score:
ENST00000304639 (MANE Select)
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82243727 (AMR)
Genomes Max Group AF
0.76142436 (AMR)
Exomes Max Group AF
0.84024292 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20892057C>G , CM000676.2:g.20892057C>G | GRCh38 |
| NC_000014.8:g.21360216C>G , CM000676.1:g.21360216C>G | GRCh37 |
| NC_000014.7:g.20430056C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304639.4:c.371C>G MANE Select | ENSP00000302324.3:p.Thr124Arg | |
| ENST00000304639.3:c.371C>G | ENSP00000302324.3:p.Thr124Arg | |
| NM_002935.2:c.371C>G | NP_002926.2:p.Thr124Arg | |
| XR_110261.2:n.209-16314G>C | ||
| XR_110261.3:n.726-16314G>C | ||
| NM_002935.3:c.371C>G MANE Select | NP_002926.2:p.Thr124Arg |