Revel Score:
ENST00000389048 (MANE Select)
0.574
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022648 (NFE)
Genomes Max Group AF
0.00011225 (NFE)
Exomes Max Group AF
0.00022874 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220752G>A , CM000664.2:g.29220752G>A | GRCh38 |
| NC_000002.11:g.29443618G>A , CM000664.1:g.29443618G>A | GRCh37 |
| NC_000002.10:g.29297122G>A | NCBI36 |
| NG_009445.1:g.705815C>T , LRG_488:g.705815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3599C>T MANE Select | ENSP00000373700.3:p.Ala1200Val | |
| ENST00000431873.6:c.826C>T | ||
| ENST00000638605.1:n.476C>T | ||
| ENST00000642122.1:c.395C>T | ENSP00000493203.1:p.Ala132Val | |
| ENST00000389048.7:c.3599C>T | ENSP00000373700.3:p.Ala1200Val | |
| ENST00000431873.5:c.479C>T | ENSP00000414027.2:p.Ala160Val | |
| ENST00000618119.4:c.2468C>T | ENSP00000482733.1:p.Ala823Val | |
| NM_004304.4:c.3599C>T | NP_004295.2:p.Ala1200Val | |
| NM_001353765.1:c.395C>T | NP_001340694.1:p.Ala132Val | |
| XM_024452778.1:c.752C>T | XP_024308546.1:p.Ala251Val | |
| XM_024452779.1:c.395C>T | XP_024308547.1:p.Ala132Val | |
| NM_004304.5:c.3599C>T MANE Select | NP_004295.2:p.Ala1200Val | |
| NM_001353765.2:c.395C>T | NP_001340694.1:p.Ala132Val |