Revel Score:
ENST00000447944 (MANE Select)
0.629
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002672 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002719 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55647421C>G , CM000664.2:g.55647421C>G | GRCh38 |
| NC_000002.11:g.55874556C>G , CM000664.1:g.55874556C>G | GRCh37 |
| NC_000002.10:g.55728060C>G | NCBI36 |
| NG_033012.1:g.51490G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1528G>C MANE Select | ENSP00000400646.2:p.Ala510Pro | |
| ENST00000260604.8:c.*1083G>C | ENSP00000260604.4:n.*1083G>C | |
| ENST00000415374.5:c.1528G>C | ENSP00000393953.1:p.Ala510Pro | |
| ENST00000415489.1:c.535G>C | ||
| ENST00000447944.6:c.1528G>C | ENSP00000400646.2:p.Ala510Pro | |
| NM_033109.4:c.1528G>C | NP_149100.2:p.Ala510Pro | |
| XM_005264629.1:c.1288G>C | XP_005264686.1:p.Ala430Pro | |
| XM_011533142.1:c.*60G>C | XP_011531444.1:n.*60G>C | |
| XM_005264629.2:c.1288G>C | XP_005264686.1:p.Ala430Pro | |
| XM_017005172.1:c.1288G>C | XP_016860661.1:p.Ala430Pro | |
| XR_001739010.1:n.1605G>C | ||
| NM_033109.5:c.1528G>C MANE Select | NP_149100.2:p.Ala510Pro |