COSMIC:
COSM1356592 (not active)
Revel Score:
ENST00000294309 (MANE Select)
0.235
ENST00000535009
0.235
ENST00000542467
0.235
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44629007 (SAS)
Genomes Max Group AF
0.43827986 (SAS)
Exomes Max Group AF
0.445956 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69072692A>G , CM000673.2:g.69072692A>G | GRCh38 |
| NC_000011.9:g.68840160A>G , CM000673.1:g.68840160A>G | GRCh37 |
| NC_000011.8:g.68596736A>G | NCBI36 |
| NG_016153.1:g.28811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294309.8:c.1127A>G MANE Select | ENSP00000294309.3:p.Lys376Arg | |
| ENST00000635811.1:c.1127A>G | ENSP00000490341.1:p.Lys376Arg | |
| ENST00000637342.1:c.1127A>G | ENSP00000490171.1:p.Lys376Arg | |
| ENST00000637504.1:c.1127A>G | ENSP00000489759.1:p.Lys376Arg | |
| ENST00000294309.7:c.1127A>G | ENSP00000294309.3:p.Lys376Arg | |
| ENST00000442692.2:n.823+669A>G | ||
| ENST00000535009.5:n.936A>G | ||
| ENST00000542467.1:c.1127A>G | ENSP00000445551.1:p.Lys376Arg | |
| NM_139075.3:c.1127A>G | NP_620714.2:p.Lys376Arg | |
| XM_005273824.2:c.1124A>G | XP_005273881.1:p.Lys375Arg | |
| XM_005273826.2:c.872A>G | XP_005273883.1:p.Lys291Arg | |
| XM_005273827.2:c.1127A>G | XP_005273884.1:p.Lys376Arg | |
| XM_005273828.2:c.1127A>G | XP_005273885.1:p.Lys376Arg | |
| XM_005273830.2:c.434A>G | XP_005273887.1:p.Lys145Arg | |
| XM_005273831.2:c.434A>G | XP_005273888.1:p.Lys145Arg | |
| XM_005273832.2:c.404A>G | XP_005273889.1:p.Lys135Arg | |
| XM_006718453.2:c.1127A>G | XP_006718516.1:p.Lys376Arg | |
| XM_006718454.2:c.1127A>G | XP_006718517.1:p.Lys376Arg | |
| XM_006718456.2:c.1127A>G | XP_006718519.1:p.Lys376Arg | |
| XM_011544802.1:c.887A>G | XP_011543104.1:p.Lys296Arg | |
| XM_011544803.1:c.1127A>G | XP_011543105.1:p.Lys376Arg | |
| XM_011544804.1:c.1127A>G | XP_011543106.1:p.Lys376Arg | |
| XM_011544805.1:c.1127A>G | XP_011543107.1:p.Lys376Arg | |
| XM_011544806.1:c.1127A>G | XP_011543108.1:p.Lys376Arg | |
| XM_011544807.1:c.431A>G | XP_011543109.1:p.Lys144Arg | |
| XM_011544808.1:c.296A>G | XP_011543110.1:p.Lys99Arg | |
| XR_247191.1:n.1228A>G | ||
| XM_005273824.4:c.1124A>G | XP_005273881.1:p.Lys375Arg | |
| XM_005273826.4:c.872A>G | XP_005273883.1:p.Lys291Arg | |
| XM_005273830.4:c.434A>G | XP_005273887.1:p.Lys145Arg | |
| XM_005273831.4:c.434A>G | XP_005273888.1:p.Lys145Arg | |
| XM_005273832.4:c.404A>G | XP_005273889.1:p.Lys135Arg | |
| XM_011544802.3:c.887A>G | XP_011543104.1:p.Lys296Arg | |
| XM_011544807.3:c.431A>G | XP_011543109.1:p.Lys144Arg | |
| XM_011544808.3:c.296A>G | XP_011543110.1:p.Lys99Arg | |
| XM_017017328.2:c.1061+669A>G | XP_016872817.1:n.1061+669A>G | |
| XM_017017329.2:c.1058+669A>G | XP_016872818.1:n.1058+669A>G | |
| XM_017017330.2:c.404A>G | XP_016872819.1:p.Lys135Arg | |
| XM_017017331.2:c.404A>G | XP_016872820.1:p.Lys135Arg | |
| XM_017017332.2:c.218A>G | XP_016872821.1:p.Lys73Arg | |
| XM_017017333.2:c.338+669A>G | XP_016872822.1:n.338+669A>G | |
| XM_017017334.2:c.338+669A>G | XP_016872823.1:n.338+669A>G | |
| XM_017017335.2:c.338+669A>G | XP_016872824.1:n.338+669A>G | |
| XM_017017336.2:c.230+669A>G | XP_016872825.1:n.230+669A>G | |
| XM_024448392.1:c.917A>G | XP_024304160.1:p.Lys306Arg | |
| XM_024448393.1:c.404A>G | XP_024304161.1:p.Lys135Arg | |
| XR_001747789.2:n.1162+669A>G | ||
| XR_001747790.2:n.1162+669A>G | ||
| XR_247191.3:n.1231A>G | ||
| NM_139075.4:c.1127A>G MANE Select | NP_620714.2:p.Lys376Arg |