Revel Score:
ENST00000246635 (MANE Select)
0.626
ENST00000336861
0.626
ENST00000157775
0.626
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89915551 (SAS)
Genomes Max Group AF
0.8934127 (NFE)
Exomes Max Group AF
0.89902806 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41503661G>A , CM000679.2:g.41503661G>A | GRCh38 |
| NC_000017.10:g.39659913G>A , CM000679.1:g.39659913G>A | GRCh37 |
| NC_000017.9:g.36913439G>A | NCBI36 |
| NG_008406.1:g.6953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.560C>T MANE Select | ENSP00000246635.3:p.Ala187Val | |
| ENST00000246635.7:c.560C>T | ENSP00000246635.3:p.Ala187Val | |
| ENST00000336861.7:c.560C>T | ENSP00000336604.3:p.Ala187Val | |
| ENST00000464634.2:c.*157C>T | ENSP00000466525.1:n.*157C>T | |
| ENST00000468313.5:n.396C>T | ||
| ENST00000587118.1:n.577C>T | ||
| ENST00000587435.1:c.400-318C>T | ENSP00000467833.1:n.400-318C>T | |
| ENST00000587544.5:c.560C>T | ENSP00000468221.1:p.Ala187Val | |
| ENST00000590425.1:c.239C>T | ENSP00000466465.1:p.Ala80Val | |
| NM_002274.3:c.560C>T | NP_002265.2:p.Ala187Val | |
| NM_153490.2:c.560C>T | NP_705694.2:p.Ala187Val | |
| NM_153490.3:c.560C>T MANE Select | NP_705694.3:p.Ala187Val | |
| NM_002274.4:c.560C>T | NP_002265.3:p.Ala187Val |