Revel Score:
ENST00000338087 (MANE Select)
0.045
ENST00000427060
0.045
ENST00000395352
0.045
ENST00000517648
0.045
ENST00000522119
0.045
ENST00000519341
0.045
ENST00000521302
0.045
ENST00000523610
0.045
ENST00000519747
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002584 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133060107G>T , CM000670.2:g.133060107G>T | GRCh38 |
| NC_000008.10:g.134072352G>T , CM000670.1:g.134072352G>T | GRCh37 |
| NC_000008.9:g.134141534G>T | NCBI36 |
| NG_015832.1:g.198148G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7239+30084G>T (TG) MANE Select | ENSP00000220616.4:n.7239+30084G>T | |
| ENST00000338087.10:c.54C>A (SLA) MANE Select | ENSP00000337548.5:p.Asn18Lys | |
| ENST00000220616.8:c.7239+30084G>T (TG) | ENSP00000220616.4:n.7239+30084G>T | |
| ENST00000338087.9:c.54C>A (SLA) | ENSP00000337548.5:p.Asn18Lys | |
| ENST00000395352.7:c.105C>A (SLA) | ENSP00000378759.3:p.Asn35Lys | |
| ENST00000427060.6:c.174C>A (SLA) | ENSP00000394049.2:p.Asn58Lys | |
| ENST00000517648.5:c.105C>A (SLA) | ENSP00000428559.1:p.Asn35Lys | |
| ENST00000518565.5:n.418C>A (SLA) | ||
| ENST00000518594.1:n.264C>A (SLA) | ||
| ENST00000519178.5:c.2605+30084G>T (TG) | ||
| ENST00000519341.5:c.54C>A (SLA) | ENSP00000429681.1:p.Asn18Lys | |
| ENST00000519504.5:n.182C>A (SLA) | ||
| ENST00000519543.5:c.1638+30084G>T (TG) | ENSP00000430430.1:n.1638+30084G>T | |
| ENST00000519747.5:c.54C>A (SLA) | ENSP00000428971.1:p.Asn18Lys | |
| ENST00000520106.5:n.269C>A (SLA) | ||
| ENST00000521302.5:c.54C>A (SLA) | ENSP00000430184.1:p.Asn18Lys | |
| ENST00000521823.5:n.355-9192C>A (SLA) | ||
| ENST00000522002.5:n.195C>A (SLA) | ||
| ENST00000522119.5:c.54C>A (SLA) | ENSP00000430596.1:p.Asn18Lys | |
| ENST00000522432.5:c.54C>A (SLA) | ENSP00000429844.1:p.Asn18Lys | |
| ENST00000523224.5:n.191C>A (SLA) | ||
| ENST00000523610.5:c.54C>A (SLA) | ENSP00000428087.1:p.Asn18Lys | |
| ENST00000523756.5:c.3894+30084G>T (TG) | ||
| ENST00000524345.5:c.-263-9192C>A (SLA) | ENSP00000427928.1:n.-263-9192C>A | |
| NM_001045556.2:c.54C>A (SLA) | NP_001039021.1:p.Asn18Lys | |
| NM_001045557.2:c.105C>A (SLA) | NP_001039022.2:p.Asn35Lys | |
| NM_001282964.1:c.105C>A (SLA) | NP_001269893.1:p.Asn35Lys | |
| NM_001282965.1:c.-263-9192C>A (SLA) | NP_001269894.1:n.-263-9192C>A | |
| NM_003235.4:c.7239+30084G>T (TG) | NP_003226.4:n.7239+30084G>T | |
| NM_006748.3:c.174C>A (SLA) | NP_006739.2:p.Asn58Lys | |
| XM_005251038.3:c.7047+30084G>T (TG) | XP_005251095.1:n.7047+30084G>T | |
| XM_006716622.2:c.7176+30084G>T (TG) | XP_006716685.1:n.7176+30084G>T | |
| XM_011517227.1:c.-263-9192C>A (SLA) | XP_011515529.1:n.-263-9192C>A | |
| XM_005251038.4:c.7047+30084G>T (TG) | XP_005251095.1:n.7047+30084G>T | |
| XM_006716622.3:c.7176+30084G>T (TG) | XP_006716685.1:n.7176+30084G>T | |
| XM_017013739.2:c.-263-9192C>A (SLA) | XP_016869228.1:n.-263-9192C>A | |
| XM_017013793.1:c.7173+30084G>T (TG) | XP_016869282.1:n.7173+30084G>T | |
| XM_017013794.1:c.7239+30084G>T (TG) | XP_016869283.1:n.7239+30084G>T | |
| XM_017013795.1:c.7068+30084G>T (TG) | XP_016869284.1:n.7068+30084G>T | |
| XM_017013796.1:c.7020+30084G>T (TG) | XP_016869285.1:n.7020+30084G>T | |
| XM_017013797.1:c.6978+30084G>T (TG) | XP_016869286.1:n.6978+30084G>T | |
| XM_017013798.1:c.7239+30084G>T (TG) | XP_016869287.1:n.7239+30084G>T | |
| NM_001045556.3:c.54C>A (SLA) MANE Select | NP_001039021.1:p.Asn18Lys | |
| NM_003235.5:c.7239+30084G>T (TG) MANE Select | NP_003226.4:n.7239+30084G>T | |
| NM_001045557.3:c.105C>A (SLA) | NP_001039022.2:p.Asn35Lys | |
| NM_001282964.2:c.105C>A (SLA) | NP_001269893.1:p.Asn35Lys | |
| NM_001282965.2:c.-263-9192C>A (SLA) | NP_001269894.1:n.-263-9192C>A | |
| NM_006748.4:c.174C>A (SLA) | NP_006739.2:p.Asn58Lys |