COSMIC:
COSM5019768 (not active)
Revel Score:
ENST00000237289
0.065
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026706 (NFE)
Genomes Max Group AF
0.00045669 (NFE)
Exomes Max Group AF
0.00024768 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137881310G>A , CM000668.2:g.137881310G>A | GRCh38 |
| NC_000006.11:g.138202447G>A , CM000668.1:g.138202447G>A | GRCh37 |
| NC_000006.10:g.138244140G>A | NCBI36 |
| NG_032761.1:g.18867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420009.6:c.2364G>A | ENSP00000401562.2:p.Met788Ile | |
| ENST00000711061.1:c.*2087G>A | ENSP00000518561.1:n.*2087G>A | |
| ENST00000421450.2:c.2364G>A | ENSP00000393577.2:p.Met788Ile | |
| ENST00000433680.2:c.2364G>A | ENSP00000409845.2:p.Met788Ile | |
| ENST00000485192.2:n.2985G>A | ||
| ENST00000698329.1:n.3432G>A | ||
| ENST00000612899.5:c.2364G>A MANE Select | ENSP00000481570.1:p.Met788Ile | |
| ENST00000237289.8:c.2364G>A | ENSP00000237289.4:p.Met788Ile | |
| ENST00000612899.4:c.2364G>A | ENSP00000481570.1:p.Met788Ile | |
| ENST00000615468.4:c.*1718G>A | ENSP00000479556.1:n.*1718G>A | |
| ENST00000620204.3:c.*352G>A | ENSP00000481454.1:n.*352G>A | |
| NM_001270507.1:c.2364G>A | NP_001257436.1:p.Met788Ile | |
| NM_001270508.1:c.2364G>A | NP_001257437.1:p.Met788Ile | |
| NM_006290.3:c.2364G>A | NP_006281.1:p.Met788Ile | |
| XM_005267119.1:c.2364G>A | XP_005267176.1:p.Met788Ile | |
| XM_006715555.1:c.1725G>A | XP_006715618.1:p.Met575Ile | |
| XM_011536095.1:c.2364G>A | XP_011534397.1:p.Met788Ile | |
| XM_011536096.1:c.*112G>A | XP_011534398.1:n.*112G>A | |
| XM_011536096.2:c.*112G>A | XP_011534398.1:n.*112G>A | |
| XM_024446532.1:c.2364G>A | XP_024302300.1:p.Met788Ile | |
| XM_024446533.1:c.2364G>A | XP_024302301.1:p.Met788Ile | |
| NM_001270508.2:c.2364G>A MANE Select | NP_001257437.1:p.Met788Ile | |
| NM_001270507.2:c.2364G>A | NP_001257436.1:p.Met788Ile | |
| NM_006290.4:c.2364G>A | NP_006281.1:p.Met788Ile |