Revel Score:
ENST00000262948 (MANE Select)
0.266
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117619C>A , CM000681.2:g.4117619C>A | GRCh38 |
| NC_000019.9:g.4117617C>A , CM000681.1:g.4117617C>A | GRCh37 |
| NC_000019.8:g.4068617C>A | NCBI36 |
| NG_007996.1:g.11510G>T , LRG_750:g.11510G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.542G>T | ||
| ENST00000687128.1:n.542G>T | ||
| ENST00000262948.10:c.103G>T MANE Select | ENSP00000262948.4:p.Val35Leu | |
| ENST00000262948.9:c.103G>T | ENSP00000262948.3:p.Val35Leu | |
| ENST00000394867.8:c.-189G>T | ENSP00000378336.1:n.-189G>T | |
| ENST00000599345.1:n.300G>T | ||
| NM_030662.3:c.103G>T , LRG_750t1:c.103G>T | NP_109587.1:p.Val35Leu | |
| XM_006722799.2:c.103G>T | XP_006722862.1:p.Val35Leu | |
| XM_017026989.1:c.103G>T | XP_016882478.1:p.Val35Leu | |
| XM_017026990.1:c.103G>T | XP_016882479.1:p.Val35Leu | |
| XM_017026991.1:c.103G>T | XP_016882480.1:p.Val35Leu | |
| NM_030662.4:c.103G>T MANE Select | NP_109587.1:p.Val35Leu |