COSMIC:
COSM3761168 (not active)
Revel Score:
ENST00000261937 (MANE Select)
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1097387 (NFE)
Genomes Max Group AF
0.10463305 (NFE)
Exomes Max Group AF
0.10994068 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603313C>A , CM000667.2:g.180603313C>A | GRCh38 |
| NC_000005.9:g.180030313C>A , CM000667.1:g.180030313C>A | GRCh37 |
| NC_000005.8:g.179962919C>A | NCBI36 |
| NG_011536.1:g.51312G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3971G>T MANE Select | ENSP00000261937.6:p.Arg1324Leu | |
| ENST00000261937.10:c.3971G>T | ENSP00000261937.6:p.Arg1324Leu | |
| ENST00000502603.5:n.671G>T | ||
| NM_182925.4:c.3971G>T | NP_891555.2:p.Arg1324Leu | |
| XM_011534477.1:c.4220G>T | XP_011532779.1:p.Arg1407Leu | |
| XM_011534478.1:c.4202G>T | XP_011532780.1:p.Arg1401Leu | |
| XM_011534479.1:c.*117G>T | XP_011532781.1:n.*117G>T | |
| XM_011534482.1:c.3989G>T | XP_011532784.1:p.Arg1330Leu | |
| XM_011534483.1:c.3911G>T | XP_011532785.1:p.Arg1304Leu | |
| XM_011534484.1:c.3512G>T | XP_011532786.1:p.Arg1171Leu | |
| XR_941095.1:n.4257G>T | ||
| XM_011534478.3:c.4202G>T | XP_011532780.1:p.Arg1401Leu | |
| XM_011534484.2:c.3512G>T | XP_011532786.1:p.Arg1171Leu | |
| XM_017009263.1:c.*117G>T | XP_016864752.1:n.*117G>T | |
| XM_017009268.1:c.3893G>T | XP_016864757.1:p.Arg1298Leu | |
| XR_001742050.2:n.4461G>T | ||
| NM_182925.5:c.3971G>T MANE Select | NP_891555.2:p.Arg1324Leu |