COSMIC:
COSM4417053 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22344746 (AMR)
Genomes Max Group AF
0.1749983 (EAS)
Exomes Max Group AF
0.24721965 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113975355C>T , CM000673.2:g.113975355C>T | GRCh38 |
| NC_000011.9:g.113846077C>T , CM000673.1:g.113846077C>T | GRCh37 |
| NC_000011.8:g.113351287C>T | NCBI36 |
| NG_013058.1:g.5281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504030.7:c.30C>T MANE Select | ENSP00000424189.2:p.Leu10= | |
| ENST00000355556.6:c.48C>T | ENSP00000347754.2:p.Leu16= | |
| ENST00000375498.6:c.48C>T | ENSP00000364648.2:p.Leu16= | |
| ENST00000504030.6:c.30C>T | ENSP00000424189.2:p.Leu10= | |
| ENST00000506841.6:c.30C>T | ENSP00000424776.2:p.Leu10= | |
| ENST00000510849.5:c.30C>T | ENSP00000423653.1:p.Leu10= | |
| NM_000869.5:c.48C>T | NP_000860.2:p.Leu16= | |
| NM_213621.3:c.48C>T | NP_998786.2:p.Leu16= | |
| NR_046363.1:n.281C>T | ||
| NM_000869.6:c.30C>T MANE Select | NP_000860.3:p.Leu10= | |
| NM_213621.4:c.30C>T | NP_998786.3:p.Leu10= | |
| NR_046363.2:n.248C>T |