COSMIC:
COSM437180 (not active)
COSM1385279 (not active)
Revel Score:
ENST00000319004 (MANE Select)
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2576614 (NFE)
Genomes Max Group AF
0.25332279 (NFE)
Exomes Max Group AF
0.25775556 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746265T>A , CM000679.2:g.746265T>A | GRCh38 |
| NC_000017.10:g.649505T>A , CM000679.1:g.649505T>A | GRCh37 |
| NC_000017.9:g.596255T>A | NCBI36 |
| NG_046938.1:g.11608A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.1778A>T MANE Select | ENSP00000321706.5:p.Glu593Val | |
| ENST00000319004.5:c.1778A>T | ENSP00000321706.5:p.Glu593Val | |
| ENST00000576778.1:c.1745A>T | ENSP00000459565.1:p.Glu582Val | |
| NM_015721.2:c.1778A>T | NP_056536.2:p.Glu593Val | |
| XM_005256667.3:c.1790A>T | XP_005256724.1:p.Glu597Val | |
| XM_005256668.3:c.1790A>T | XP_005256725.1:p.Glu597Val | |
| XM_005256670.3:c.1745A>T | XP_005256727.1:p.Glu582Val | |
| XM_011523910.1:c.1790A>T | XP_011522212.1:p.Glu597Val | |
| XM_011523911.1:c.1790A>T | XP_011522213.1:p.Glu597Val | |
| XM_011523912.1:c.1745A>T | XP_011522214.1:p.Glu582Val | |
| XM_011523913.1:c.1745A>T | XP_011522215.1:p.Glu582Val | |
| XM_005256667.4:c.1790A>T | XP_005256724.1:p.Glu597Val | |
| XM_005256670.5:c.1745A>T | XP_005256727.1:p.Glu582Val | |
| XM_011523910.2:c.1790A>T | XP_011522212.1:p.Glu597Val | |
| XM_011523911.2:c.1790A>T | XP_011522213.1:p.Glu597Val | |
| XM_011523912.2:c.1745A>T | XP_011522214.1:p.Glu582Val | |
| XM_011523913.2:c.1745A>T | XP_011522215.1:p.Glu582Val | |
| XM_017024709.1:c.1790A>T | XP_016880198.1:p.Glu597Val | |
| NM_015721.3:c.1778A>T MANE Select | NP_056536.2:p.Glu593Val |