COSMIC:
COSM3749972 (not active)
Revel Score:
ENST00000229771 (MANE Select)
0.182
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96931071 (AFR)
Genomes Max Group AF
0.96584131 (AFR)
Exomes Max Group AF
0.96816692 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35511797G>C , CM000668.2:g.35511797G>C | GRCh38 |
| NC_000006.11:g.35479574G>C , CM000668.1:g.35479574G>C | GRCh37 |
| NC_000006.10:g.35587552G>C | NCBI36 |
| NG_009077.1:g.6074C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.200C>G MANE Select | ENSP00000229771.6:p.Thr67Arg | |
| ENST00000229771.10:c.200C>G | ENSP00000229771.6:p.Thr67Arg | |
| ENST00000322263.8:c.190+383C>G | ENSP00000319414.4:n.190+383C>G | |
| ENST00000373892.4:n.171C>G | ||
| ENST00000428978.1:c.190+383C>G | ENSP00000406765.1:n.190+383C>G | |
| ENST00000448446.2:n.105C>G | ||
| ENST00000614066.4:c.200C>G | ENSP00000477534.1:p.Thr67Arg | |
| NM_001289395.1:c.190+383C>G | NP_001276324.1:n.190+383C>G | |
| NM_003322.4:c.200C>G | NP_003313.3:p.Thr67Arg | |
| NM_003322.5:c.200C>G | NP_003313.3:p.Thr67Arg | |
| NM_003322.6:c.200C>G MANE Select | NP_003313.3:p.Thr67Arg | |
| NM_001289395.2:c.190+383C>G | NP_001276324.1:n.190+383C>G |