Revel Score:
ENST00000377636 (MANE Select)
0.087
ENST00000431480
0.087
ENST00000377625
0.087
ENST00000425511
0.087
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49511863 (AFR)
Genomes Max Group AF
0.48613903 (AFR)
Exomes Max Group AF
0.50232884 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75286865A>G , CM000675.2:g.75286865A>G | GRCh38 |
| NC_000013.10:g.75861001A>G , CM000675.1:g.75861001A>G | GRCh37 |
| NC_000013.9:g.74759002A>G | NCBI36 |
| NG_042850.1:g.200304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377636.8:c.3824T>C MANE Select | ENSP00000366863.3:p.Val1275Ala | |
| ENST00000648194.1:c.3092T>C | ENSP00000496983.1:p.Val1031Ala | |
| ENST00000377625.6:c.3635T>C | ENSP00000366852.2:p.Val1212Ala | |
| ENST00000377636.7:c.3824T>C | ENSP00000366863.3:p.Val1275Ala | |
| ENST00000431480.6:c.3800T>C | ENSP00000395986.2:p.Val1267Ala | |
| NM_001286658.1:c.3800T>C | NP_001273587.1:p.Val1267Ala | |
| NM_001286658.2:c.3800T>C | NP_001273587.1:p.Val1267Ala | |
| NM_001286659.1:c.3635T>C | NP_001273588.1:p.Val1212Ala | |
| NM_001286659.2:c.3635T>C | NP_001273588.1:p.Val1212Ala | |
| NM_014832.3:c.3824T>C | NP_055647.2:p.Val1275Ala | |
| NM_014832.4:c.3824T>C | NP_055647.2:p.Val1275Ala | |
| XM_005266603.1:c.3749T>C | XP_005266660.1:p.Val1250Ala | |
| XM_005266605.1:c.3281T>C | XP_005266662.1:p.Val1094Ala | |
| XM_006719903.2:c.3350T>C | XP_006719966.1:p.Val1117Ala | |
| XM_011535331.1:c.3713T>C | XP_011533633.1:p.Val1238Ala | |
| XM_005266603.2:c.3749T>C | XP_005266660.1:p.Val1250Ala | |
| XM_005266605.3:c.3281T>C | XP_005266662.1:p.Val1094Ala | |
| XM_006719903.3:c.3350T>C | XP_006719966.1:p.Val1117Ala | |
| XM_011535331.2:c.3713T>C | XP_011533633.1:p.Val1238Ala | |
| XM_017020882.2:c.3092T>C | XP_016876371.1:p.Val1031Ala | |
| XM_017020883.2:c.2981T>C | XP_016876372.1:p.Val994Ala | |
| XM_017020884.2:c.1391T>C | XP_016876373.1:p.Val464Ala | |
| NM_014832.5:c.3824T>C MANE Select | NP_055647.2:p.Val1275Ala |