Revel Score:
ENST00000394660
0.132
ENST00000355368
0.132
ENST00000302987
0.132
ENST00000329842
0.132
ENST00000394653
0.132
ENST00000394652
0.132
ENST00000394656
0.132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81305928T>A , CM000677.2:g.81305928T>A | GRCh38 |
| NC_000015.9:g.81598269T>A , CM000677.1:g.81598269T>A | GRCh37 |
| NC_000015.8:g.79385324T>A | NCBI36 |
| NG_029933.1:g.114051T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302987.10:c.3582T>A | ENSP00000302935.5:p.Asn1194Lys | |
| ENST00000706926.1:c.3441T>A | ENSP00000516648.1:p.Asn1147Lys | |
| ENST00000302987.9:c.3582T>A | ENSP00000302935.5:p.Asn1194Lys | |
| ENST00000683961.1:c.3441T>A MANE Select | ENSP00000508085.1:p.Asn1147Lys | |
| ENST00000302987.8:c.3441T>A | ENSP00000302935.4:p.Asn1147Lys | |
| ENST00000360547.9:c.*2618T>A | ENSP00000456972.1:n.*2618T>A | |
| ENST00000394652.6:c.1338T>A | ENSP00000378147.2:p.Asn446Lys | |
| ENST00000394660.6:c.3441T>A | ENSP00000378155.2:p.Asn1147Lys | |
| ENST00000558332.3:c.1352T>A | ||
| ENST00000558857.5:c.1555T>A | ENSP00000453131.1:n.1555T>A | |
| ENST00000559342.1:n.285T>A | ||
| ENST00000559388.4:c.1338T>A | ENSP00000458125.2:p.Asn446Lys | |
| ENST00000559953.1:n.183T>A | ||
| ENST00000560115.5:c.3411T>A | ||
| NM_001172128.1:c.3441T>A | NP_001165599.1:p.Asn1147Lys | |
| NM_004513.5:c.1338T>A | NP_004504.3:p.Asn446Lys | |
| NM_172217.3:c.3441T>A | NP_757366.2:p.Asn1147Lys | |
| XM_005254342.2:c.3582T>A | XP_005254399.1:p.Asn1194Lys | |
| XM_005254346.3:c.1338T>A | XP_005254403.1:p.Asn446Lys | |
| XM_011521518.1:c.3303T>A | XP_011519820.1:p.Asn1101Lys | |
| XM_011521519.1:c.3441T>A | XP_011519821.1:p.Asn1147Lys | |
| XM_011521520.1:c.3441T>A | XP_011519822.1:p.Asn1147Lys | |
| XR_931805.1:n.3618T>A | ||
| NM_001352684.1:c.1611T>A | NP_001339613.1:p.Asn537Lys | |
| NM_001352685.1:c.2931T>A | NP_001339614.1:p.Asn977Lys | |
| NM_001352686.1:c.3594T>A | NP_001339615.1:p.Asn1198Lys | |
| NM_172217.4:c.3441T>A | NP_757366.2:p.Asn1147Lys | |
| NR_148035.1:n.3653T>A | ||
| NM_001172128.2:c.3441T>A | NP_001165599.1:p.Asn1147Lys | |
| NM_001352684.2:c.1611T>A | NP_001339613.1:p.Asn537Lys | |
| NM_001352685.2:c.2931T>A | NP_001339614.1:p.Asn977Lys | |
| NM_004513.6:c.1338T>A | NP_004504.3:p.Asn446Lys | |
| NM_172217.5:c.3441T>A MANE Select | NP_757366.2:p.Asn1147Lys | |
| NR_148035.2:n.3652T>A | ||
| NM_001352686.2:c.3594T>A | NP_001339615.1:p.Asn1198Lys |