Revel Score:
ENST00000401884
0.156
ENST00000310397 (MANE Select)
0.156
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10674834 (AFR)
Genomes Max Group AF
0.10226406 (AFR)
Exomes Max Group AF
0.11063962 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241073314G>A , CM000664.2:g.241073314G>A | GRCh38 |
| NC_000002.11:g.242012729G>A , CM000664.1:g.242012729G>A | GRCh37 |
| NC_000002.10:g.241661402G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310397.13:c.3866G>A (SNED1) MANE Select | ENSP00000308893.8:p.Arg1289Gln | |
| ENST00000310397.12:c.3866G>A (SNED1) | ENSP00000308893.8:p.Arg1289Gln | |
| ENST00000342631.7:c.1522+1436G>A (SNED1) | ENSP00000342992.7:n.1522+1436G>A | |
| ENST00000401884.5:c.3866G>A (SNED1) | ENSP00000384871.1:p.Arg1289Gln | |
| ENST00000405547.7:c.3817+1436G>A (SNED1) | ENSP00000386007.3:n.3817+1436G>A | |
| ENST00000464344.6:n.2848C>T (MTERF4) | ||
| ENST00000466618.1:n.1655+1436G>A (SNED1) | ||
| ENST00000491761.1:n.1834G>A (SNED1) | ||
| NM_001080437.1:c.3866G>A (SNED1) | NP_001073906.1:p.Arg1289Gln | |
| XM_011510931.1:c.3938G>A (SNED1) | XP_011509233.1:p.Arg1313Gln | |
| XM_011510932.1:c.3889+1436G>A (SNED1) | XP_011509234.1:n.3889+1436G>A | |
| XM_011510933.1:c.3938G>A (SNED1) | XP_011509235.1:p.Arg1313Gln | |
| XM_011510935.1:c.*97G>A (SNED1) | XP_011509237.1:n.*97G>A | |
| XM_011510936.1:c.*48+1436G>A (SNED1) | XP_011509238.1:n.*48+1436G>A | |
| XR_427084.2:n.1820G>A (SNED1) | ||
| XR_922895.1:n.3968G>A (SNED1) | ||
| XR_922896.1:n.3954G>A (SNED1) | ||
| XR_922897.1:n.3923+1436G>A (SNED1) | ||
| XR_922898.1:n.3854G>A (SNED1) | ||
| XR_922899.1:n.3759G>A (SNED1) | ||
| XR_922900.1:n.3728G>A (SNED1) | ||
| XR_922901.1:n.3882G>A (SNED1) | ||
| NM_001080437.2:c.3866G>A (SNED1) | NP_001073906.1:p.Arg1289Gln | |
| XM_011510931.2:c.3938G>A (SNED1) | XP_011509233.1:p.Arg1313Gln | |
| XM_011510932.2:c.3889+1436G>A (SNED1) | XP_011509234.1:n.3889+1436G>A | |
| XM_011510933.2:c.3938G>A (SNED1) | XP_011509235.1:p.Arg1313Gln | |
| XM_024452784.1:c.3938G>A (SNED1) | XP_024308552.1:p.Arg1313Gln | |
| XR_001738694.1:n.4039G>A (SNED1) | ||
| XR_001738695.1:n.3990+1436G>A (SNED1) | ||
| XR_002959254.1:n.4182G>A (SNED1) | ||
| XR_002959255.1:n.3950G>A (SNED1) | ||
| XR_002959256.1:n.4134+1436G>A (SNED1) | ||
| XR_002959257.1:n.4068G>A (SNED1) | ||
| XR_002959258.1:n.3958G>A (SNED1) | ||
| XR_002959259.1:n.3946G>A (SNED1) | ||
| XR_002959260.1:n.3882G>A (SNED1) | ||
| XR_002959261.1:n.3738G>A (SNED1) | ||
| XR_002959262.1:n.3714G>A (SNED1) | ||
| XR_002959263.1:n.3077G>A (SNED1) | ||
| NM_001080437.3:c.3866G>A (SNED1) MANE Select | NP_001073906.1:p.Arg1289Gln | |
| NR_138463.2:n.5493C>T (MTERF4) |