Revel Score:
ENST00000379238 (MANE Select)
0.252
ENST00000449054
0.252
ENST00000360802
0.252
ENST00000431417
0.252
ENST00000379235
0.252
ENST00000379239
0.252
ENST00000539807
0.252
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001994 (NFE)
Exomes Max Group AF
0.00002082 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33922527T>A , CM000671.2:g.33922527T>A | GRCh38 |
| NC_000009.11:g.33922525T>A , CM000671.1:g.33922525T>A | GRCh37 |
| NC_000009.10:g.33912525T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360802.6:c.3178A>T | ENSP00000354039.2:p.Asn1060Tyr | |
| ENST00000379239.9:c.3196A>T | ENSP00000368541.6:p.Asn1066Tyr | |
| ENST00000681980.1:c.*3121A>T | ENSP00000508311.1:n.*3121A>T | |
| ENST00000682209.1:c.*3249A>T | ENSP00000508211.1:n.*3249A>T | |
| ENST00000682239.1:c.3337A>T | ENSP00000507293.1:p.Asn1113Tyr | |
| ENST00000682538.1:n.2846A>T | ||
| ENST00000682914.1:c.*2144A>T | ENSP00000508380.1:n.*2144A>T | |
| ENST00000682949.1:n.1713A>T | ||
| ENST00000683084.1:n.3519A>T | ||
| ENST00000683140.1:c.*2901A>T | ENSP00000508255.1:n.*2901A>T | |
| ENST00000683252.1:c.*3204A>T | ENSP00000507246.1:n.*3204A>T | |
| ENST00000683659.1:c.*2560A>T | ENSP00000507108.1:n.*2560A>T | |
| ENST00000683717.1:c.*2251A>T | ENSP00000508304.1:n.*2251A>T | |
| ENST00000684158.1:c.3337A>T | ENSP00000508372.1:p.Asn1113Tyr | |
| ENST00000684245.1:n.481A>T | ||
| ENST00000684754.1:c.*2913A>T | ENSP00000507698.1:n.*2913A>T | |
| ENST00000379238.7:c.3337A>T MANE Select | ENSP00000368540.2:p.Asn1113Tyr | |
| ENST00000360802.5:c.3337A>T | ENSP00000354039.1:p.Asn1113Tyr | |
| ENST00000379235.5:n.2005A>T | ||
| ENST00000379238.5:c.3337A>T | ENSP00000368540.1:p.Asn1113Tyr | |
| ENST00000379239.8:c.1054A>T | ENSP00000368541.5:p.Asn352Tyr | |
| ENST00000539807.5:c.1633-2A>T | ENSP00000439329.2:n.1633-2A>T | |
| ENST00000629575.2:c.*2465A>T | ENSP00000486626.1:n.*2465A>T | |
| NM_001282529.1:c.2536A>T | NP_001269458.1:p.Asn846Tyr | |
| NM_001282530.1:c.1054A>T | NP_001269459.1:p.Asn352Tyr | |
| NM_018449.3:c.3337A>T | NP_060919.3:p.Asn1113Tyr | |
| NM_001370059.1:c.3337A>T | NP_001356988.1:p.Asn1113Tyr | |
| NM_001370062.2:c.3337A>T MANE Select | NP_001356991.2:p.Asn1113Tyr | |
| NM_001370064.1:c.3064A>T | NP_001356993.1:p.Asn1022Tyr | |
| NM_001370066.1:c.3223A>T | NP_001356995.1:p.Asn1075Tyr | |
| NM_001370067.1:c.3178A>T | NP_001356996.1:p.Asn1060Tyr | |
| NM_001370068.1:c.3223A>T | NP_001356997.1:p.Asn1075Tyr | |
| NR_163243.1:n.3074A>T | ||
| NM_001282530.2:c.1054A>T | NP_001269459.1:p.Asn352Tyr | |
| NM_001370059.2:c.3337A>T | NP_001356988.2:p.Asn1113Tyr | |
| NM_001370064.2:c.3064A>T | NP_001356993.2:p.Asn1022Tyr | |
| NM_001370066.2:c.3223A>T | NP_001356995.2:p.Asn1075Tyr | |
| NM_001370067.2:c.3178A>T | NP_001356996.2:p.Asn1060Tyr | |
| NM_001370068.2:c.3223A>T | NP_001356997.2:p.Asn1075Tyr | |
| NR_163243.2:n.3074A>T | ||
| NM_018449.4:c.3337A>T | NP_060919.4:p.Asn1113Tyr |