COSMIC:
COSM4130507 (not active)
COSM4130508 (not active)
Revel Score:
ENST00000319004 (MANE Select)
0.089
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95043706 (AFR)
Genomes Max Group AF
0.94623733 (AFR)
Exomes Max Group AF
0.95024193 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.745258C>T , CM000679.2:g.745258C>T | GRCh38 |
| NC_000017.10:g.648498C>T , CM000679.1:g.648498C>T | GRCh37 |
| NC_000017.9:g.595248C>T | NCBI36 |
| NG_046938.1:g.12615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.2785G>A MANE Select | ENSP00000321706.5:p.Asp929Asn | |
| ENST00000319004.5:c.2785G>A | ENSP00000321706.5:p.Asp929Asn | |
| ENST00000576778.1:c.2752G>A | ENSP00000459565.1:p.Asp918Asn | |
| NM_015721.2:c.2785G>A | NP_056536.2:p.Asp929Asn | |
| XM_005256667.3:c.2797G>A | XP_005256724.1:p.Asp933Asn | |
| XM_005256668.3:c.2797G>A | XP_005256725.1:p.Asp933Asn | |
| XM_005256670.3:c.2752G>A | XP_005256727.1:p.Asp918Asn | |
| XM_011523910.1:c.2797G>A | XP_011522212.1:p.Asp933Asn | |
| XM_011523911.1:c.2797G>A | XP_011522213.1:p.Asp933Asn | |
| XM_011523912.1:c.2752G>A | XP_011522214.1:p.Asp918Asn | |
| XM_011523913.1:c.2752G>A | XP_011522215.1:p.Asp918Asn | |
| XM_005256667.4:c.2797G>A | XP_005256724.1:p.Asp933Asn | |
| XM_005256670.5:c.2752G>A | XP_005256727.1:p.Asp918Asn | |
| XM_011523910.2:c.2797G>A | XP_011522212.1:p.Asp933Asn | |
| XM_011523911.2:c.2797G>A | XP_011522213.1:p.Asp933Asn | |
| XM_011523912.2:c.2752G>A | XP_011522214.1:p.Asp918Asn | |
| XM_011523913.2:c.2752G>A | XP_011522215.1:p.Asp918Asn | |
| XM_017024709.1:c.2797G>A | XP_016880198.1:p.Asp933Asn | |
| NM_015721.3:c.2785G>A MANE Select | NP_056536.2:p.Asp929Asn |