Revel Score:
ENST00000274766
0.364
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24357700C>T , CM000668.2:g.24357700C>T | GRCh38 |
| NC_000006.11:g.24357928C>T , CM000668.1:g.24357928C>T | GRCh37 |
| NC_000006.10:g.24465907C>T | NCBI36 |
| NG_012829.1:g.5353G>A | |
| NG_012829.2:g.30593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274766.2:c.61C>T (KAAG1) | ENSP00000274766.1:p.Leu21Phe | |
| ENST00000378454.8:c.51G>A (DCDC2) MANE Select | ENSP00000367715.3:p.Lys17= | |
| ENST00000274766.1:c.61C>T (KAAG1) | ENSP00000274766.1:p.Leu21Phe | |
| ENST00000378454.7:c.51G>A (DCDC2) | ENSP00000367715.3:p.Lys17= | |
| NM_001195610.1:c.51G>A (DCDC2) | NP_001182539.1:p.Lys17= | |
| NM_016356.4:c.51G>A (DCDC2) | NP_057440.2:p.Lys17= | |
| NM_181337.3:c.61C>T (KAAG1) | NP_851854.1:p.Leu21Phe | |
| NM_016356.5:c.51G>A (DCDC2) MANE Select | NP_057440.2:p.Lys17= | |
| NM_181337.4:c.61C>T (KAAG1) | NP_851854.1:p.Leu21Phe | |
| NM_001195610.2:c.51G>A (DCDC2) | NP_001182539.1:p.Lys17= | |
| NR_174942.1:n.798C>T (KAAG1) |