Revel Score:
ENST00000520113 (MANE Select)
0.921
ENST00000369538
0.921
ENST00000353928
0.921
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Genomes Max Group AF
0.00005291 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677980C>A , CM000663.2:g.114677980C>A | GRCh38 |
| NC_000001.10:g.115220601C>A , CM000663.1:g.115220601C>A | GRCh37 |
| NC_000001.9:g.115022124C>A | NCBI36 |
| NG_008012.1:g.22576G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1142G>T | ENSP00000358551.4:p.Ser381Ile | |
| ENST00000520113.7:c.1154G>T MANE Select | ENSP00000430075.3:p.Ser385Ile | |
| ENST00000637080.1:c.937G>T | ENSP00000489753.1:n.937G>T | |
| ENST00000639077.1:n.819G>T | ||
| ENST00000369538.3:c.1241G>T | ENSP00000358551.3:p.Ser414Ile | |
| ENST00000520113.6:c.1253G>T | ENSP00000430075.2:p.Ser418Ile | |
| NM_000036.2:c.1253G>T | NP_000027.2:p.Ser418Ile | |
| NM_001172626.1:c.1241G>T | NP_001166097.1:p.Ser414Ile | |
| NM_000036.3:c.1154G>T MANE Select | NP_000027.3:p.Ser385Ile | |
| NM_001172626.2:c.1142G>T | NP_001166097.2:p.Ser381Ile |