COSMIC:
COSM4156846 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8490594 (AFR)
Genomes Max Group AF
0.84331375 (AFR)
Exomes Max Group AF
0.85000229 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731789G>T , CM000685.2:g.43731789G>T | GRCh38 |
| NC_000023.10:g.43591036G>T , CM000685.1:g.43591036G>T | GRCh37 |
| NC_000023.9:g.43475980G>T | NCBI36 |
| NG_008957.2:g.80629G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.492G>T | ENSP00000440846.1:p.Arg164= | |
| ENST00000686683.1:c.201G>T | ENSP00000509063.1:p.Arg67= | |
| ENST00000686980.1:n.1023G>T | ||
| ENST00000688006.1:c.492G>T | ENSP00000510311.1:p.Arg164= | |
| ENST00000688859.1:n.447G>T | ||
| ENST00000689087.1:c.492G>T | ENSP00000508997.1:p.Arg164= | |
| ENST00000693128.1:c.786G>T | ENSP00000508493.1:p.Arg262= | |
| ENST00000338702.4:c.891G>T MANE Select | ENSP00000340684.3:p.Arg297= | |
| ENST00000338702.3:c.891G>T | ENSP00000340684.3:p.Arg297= | |
| ENST00000542639.5:c.492G>T | ENSP00000440846.1:p.Arg164= | |
| NM_000240.3:c.891G>T | NP_000231.1:p.Arg297= | |
| NM_001270458.1:c.492G>T | NP_001257387.1:p.Arg164= | |
| NM_000240.4:c.891G>T MANE Select | NP_000231.1:p.Arg297= | |
| NM_001270458.2:c.492G>T | NP_001257387.1:p.Arg164= |