COSMIC:
COSM4001538 (not active)
Revel Score:
ENST00000392040
0.031
ENST00000392039
0.031
ENST00000438398
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34063022 (AFR)
Genomes Max Group AF
0.334067 (AFR)
Exomes Max Group AF
0.34550994 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230910379C>A , CM000664.2:g.230910379C>A | GRCh38 |
| NC_000002.11:g.231775094C>A , CM000664.1:g.231775094C>A | GRCh37 |
| NC_000002.10:g.231483338C>A | NCBI36 |
| NG_050956.1:g.55849G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650999.1:c.584G>T MANE Select | ENSP00000498258.1:p.Gly195Val | |
| ENST00000392039.2:c.584G>T | ENSP00000375893.2:p.Gly195Val | |
| ENST00000392040.5:c.584G>T | ENSP00000375894.1:p.Gly195Val | |
| ENST00000438398.1:c.584G>T | ENSP00000412768.1:p.Gly195Val | |
| ENST00000444078.5:c.584G>T | ENSP00000410267.1:p.Gly195Val | |
| ENST00000622008.4:c.584G>T | ENSP00000482381.1:p.Gly195Val | |
| NM_005683.3:c.584G>T | NP_005674.2:p.Gly195Val | |
| XM_005246952.2:c.584G>T | XP_005247009.1:p.Gly195Val | |
| XM_011512175.1:c.584G>T | XP_011510477.1:p.Gly195Val | |
| XM_011512176.1:c.584G>T | XP_011510478.1:p.Gly195Val | |
| XM_011512177.1:c.584G>T | XP_011510479.1:p.Gly195Val | |
| XM_005246952.4:c.584G>T | XP_005247009.1:p.Gly195Val | |
| XM_011512175.3:c.584G>T | XP_011510477.1:p.Gly195Val | |
| XM_011512176.2:c.584G>T | XP_011510478.1:p.Gly195Val | |
| NM_005683.4:c.584G>T MANE Select | NP_005674.2:p.Gly195Val |