COSMIC:
COSM3999952 (not active)
Revel Score:
ENST00000258168 (MANE Select)
0.209
ENST00000425577
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23658624 (NFE)
Genomes Max Group AF
0.23453693 (NFE)
Exomes Max Group AF
0.23654716 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81280891C>T , CM000678.2:g.81280891C>T | GRCh38 |
| NC_000016.9:g.81314496C>T , CM000678.1:g.81314496C>T | GRCh37 |
| NC_000016.8:g.79871997C>T | NCBI36 |
| NG_012171.1:g.47201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258168.7:c.1136C>T MANE Select | ENSP00000258168.2:p.Ala379Val | |
| ENST00000258168.6:c.1136C>T | ENSP00000258168.2:p.Ala379Val | |
| ENST00000563804.5:c.*760C>T | ENSP00000457910.1:n.*760C>T | |
| NM_017429.2:c.1136C>T | NP_059125.2:p.Ala379Val | |
| XM_011523109.1:c.1102-6404C>T | XP_011521411.1:n.1102-6404C>T | |
| XM_011523110.1:c.587C>T | XP_011521412.1:p.Ala196Val | |
| XM_011523109.2:c.1102-6404C>T | XP_011521411.1:n.1102-6404C>T | |
| XM_017023286.2:c.1136C>T | XP_016878775.1:p.Ala379Val | |
| XM_017023287.2:c.1136C>T | XP_016878776.1:p.Ala379Val | |
| XM_017023288.2:c.1136C>T | XP_016878777.1:p.Ala379Val | |
| XM_017023289.1:c.359C>T | XP_016878778.1:p.Ala120Val | |
| XR_002957813.1:n.1463C>T | ||
| NM_017429.3:c.1136C>T MANE Select | NP_059125.2:p.Ala379Val |