COSMIC:
COSM146600 (not active)
Revel Score:
ENST00000368985 (MANE Select)
0.055
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51664368 (SAS)
Genomes Max Group AF
0.51212674 (SAS)
Exomes Max Group AF
0.51605232 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150755063G>A , CM000663.2:g.150755063G>A | GRCh38 |
| NC_000001.10:g.150727539G>A , CM000663.1:g.150727539G>A | GRCh37 |
| NC_000001.9:g.148994163G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368985.8:c.337C>T MANE Select | ENSP00000357981.3:p.Arg113Trp | |
| ENST00000448301.7:c.337C>T | ENSP00000408414.2:p.Arg113Trp | |
| ENST00000472977.7:c.337C>T | ENSP00000475176.2:p.Arg113Trp | |
| ENST00000480760.2:n.444C>T | ||
| ENST00000483930.2:c.337C>T | ENSP00000475812.2:p.Arg113Trp | |
| ENST00000607427.2:c.337C>T | ENSP00000475557.2:p.Arg113Trp | |
| ENST00000679512.1:c.337C>T | ENSP00000505113.1:p.Arg113Trp | |
| ENST00000679582.1:c.337C>T | ENSP00000504885.1:p.Arg113Trp | |
| ENST00000679898.1:c.127-3055C>T | ENSP00000505326.1:n.127-3055C>T | |
| ENST00000680288.1:c.249+2795C>T | ENSP00000506001.1:n.249+2795C>T | |
| ENST00000680311.1:c.337C>T | ENSP00000505020.1:p.Arg113Trp | |
| ENST00000680471.1:c.337C>T | ENSP00000506603.1:p.Arg113Trp | |
| ENST00000680664.1:c.160C>T | ENSP00000506248.1:p.Arg54Trp | |
| ENST00000680931.1:c.337C>T | ENSP00000504934.1:p.Arg113Trp | |
| ENST00000681444.1:c.337C>T | ENSP00000505359.1:p.Arg113Trp | |
| ENST00000681728.1:c.337C>T | ENSP00000505313.1:p.Arg113Trp | |
| ENST00000368985.7:c.337C>T | ENSP00000357981.3:p.Arg113Trp | |
| ENST00000448301.6:c.249+2795C>T | ENSP00000408414.1:n.249+2795C>T | |
| ENST00000480760.1:n.276C>T | ||
| NM_001199739.1:c.249+2795C>T | NP_001186668.1:n.249+2795C>T | |
| NM_004079.4:c.337C>T | NP_004070.3:p.Arg113Trp | |
| NM_004079.5:c.337C>T MANE Select | NP_004070.3:p.Arg113Trp | |
| NM_001199739.2:c.249+2795C>T | NP_001186668.1:n.249+2795C>T |