COSMIC:
COSM3763371 (not active)
Revel Score:
ENST00000260118 (MANE Select)
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28297684 (SAS)
Genomes Max Group AF
0.286939 (SAS)
Exomes Max Group AF
0.28218081 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038753A>G , CM000670.2:g.63038753A>G | GRCh38 |
| NC_000008.10:g.63951312A>G , CM000670.1:g.63951312A>G | GRCh37 |
| NC_000008.9:g.64113866A>G | NCBI36 |
| NG_028126.1:g.5299T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260118.7:c.16T>C MANE Select | ENSP00000260118.6:p.Cys6Arg | |
| ENST00000518113.2:c.16T>C | ENSP00000504520.1:p.Cys6Arg | |
| ENST00000523788.2:n.43T>C | ||
| ENST00000677327.1:n.655T>C | ||
| ENST00000677459.1:c.16T>C | ENSP00000503731.1:p.Cys6Arg | |
| ENST00000677482.1:c.16T>C | ENSP00000504590.1:p.Cys6Arg | |
| ENST00000678069.1:n.50T>C | ||
| ENST00000679326.1:c.16T>C | ENSP00000504262.1:p.Cys6Arg | |
| ENST00000260118.6:c.16T>C | ENSP00000260118.6:p.Cys6Arg | |
| ENST00000518966.5:n.49T>C | ||
| ENST00000520609.5:n.49T>C | ||
| ENST00000523788.1:n.50T>C | ||
| NM_003878.2:c.16T>C | NP_003869.1:p.Cys6Arg | |
| XM_011517623.1:c.16T>C | XP_011515925.1:p.Cys6Arg | |
| XM_011517623.3:c.16T>C | XP_011515925.1:p.Cys6Arg | |
| NM_003878.3:c.16T>C MANE Select | NP_003869.1:p.Cys6Arg |