COSMIC:
COSM3763263 (not active)
Revel Score:
ENST00000221132 (MANE Select)
0.078
ENST00000524158
0.078
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97378348 (EAS)
Genomes Max Group AF
0.95346927 (EAS)
Exomes Max Group AF
0.97402006 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23201811C>G , CM000670.2:g.23201811C>G | GRCh38 |
| NC_000008.10:g.23059324C>G , CM000670.1:g.23059324C>G | GRCh37 |
| NC_000008.9:g.23115269C>G | NCBI36 |
| NG_032107.1:g.28357G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.626G>C MANE Select | ENSP00000221132.3:p.Arg209Thr | |
| ENST00000221132.7:c.626G>C | ENSP00000221132.3:p.Arg209Thr | |
| ENST00000524158.5:c.20G>C | ENSP00000428884.1:p.Arg7Thr | |
| ENST00000613472.1:c.152G>C | ENSP00000480778.1:p.Arg51Thr | |
| NM_003844.3:c.626G>C | NP_003835.3:p.Arg209Thr | |
| NM_003844.4:c.626G>C MANE Select | NP_003835.3:p.Arg209Thr |