COSMIC:
COSM1180584 (not active)
Revel Score:
ENST00000400331 (MANE Select)
0.186
ENST00000332878
0.186
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84415332 (EAS)
Genomes Max Group AF
0.81685192 (EAS)
Exomes Max Group AF
0.84548207 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20141094C>G , CM000669.2:g.20141094C>G | GRCh38 |
| NC_000007.13:g.20180717C>G , CM000669.1:g.20180717C>G | GRCh37 |
| NC_000007.12:g.20147242C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.2411G>C MANE Select | ENSP00000383185.3:p.Arg804Thr | |
| ENST00000332878.8:c.2411G>C | ENSP00000328410.4:p.Arg804Thr | |
| ENST00000400331.9:c.2411G>C | ENSP00000383185.3:p.Arg804Thr | |
| ENST00000589011.1:c.2411G>C | ENSP00000466864.1:p.Arg804Thr | |
| NM_182762.3:c.2411G>C | NP_877439.3:p.Arg804Thr | |
| NM_182762.4:c.2411G>C MANE Select | NP_877439.3:p.Arg804Thr |