ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005274 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.0000551 (NFE)
Revel Score:
ENST00000261769 (MANE Select)
0.310
ENST00000379120
0.310
ENST00000268794
0.310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68813353T>A , CM000678.2:g.68813353T>A | GRCh38 |
| NC_000016.9:g.68847256T>A , CM000678.1:g.68847256T>A | GRCh37 |
| NC_000016.8:g.67404757T>A | NCBI36 |
| NG_008021.1:g.81062T>A , LRG_301:g.81062T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1178T>A MANE Select | ENSP00000261769.4:p.Ile393Asn | |
| ENST00000261769.9:c.1178T>A | ENSP00000261769.4:p.Ile393Asn | |
| ENST00000422392.6:c.1137+1090T>A | ENSP00000414946.2:n.1137+1090T>A | |
| ENST00000562836.5:n.1249T>A | ||
| ENST00000565810.1:n.222T>A | ||
| ENST00000566510.5:c.1022T>A | ENSP00000458139.1:p.Ile341Asn | |
| ENST00000566612.5:c.1178T>A | ENSP00000454782.1:p.Ile393Asn | |
| ENST00000611625.4:c.1178T>A | ENSP00000481063.1:p.Ile393Asn | |
| ENST00000612417.4:c.1178T>A | ENSP00000478360.1:p.Ile393Asn | |
| ENST00000621016.4:c.1178T>A | ENSP00000480664.1:p.Ile393Asn | |
| NM_004360.3:c.1178T>A , LRG_301t1:c.1178T>A | NP_004351.1:p.Ile393Asn | |
| XM_011523488.1:c.443T>A | XP_011521790.1:p.Ile148Asn | |
| XM_011523489.1:c.443T>A | XP_011521791.1:p.Ile148Asn | |
| NM_001317184.1:c.1137+1090T>A | NP_001304113.1:n.1137+1090T>A | |
| NM_001317185.1:c.-438T>A | NP_001304114.1:n.-438T>A | |
| NM_001317186.1:c.-642T>A | NP_001304115.1:n.-642T>A | |
| NM_004360.4:c.1178T>A | NP_004351.1:p.Ile393Asn | |
| NM_004360.5:c.1178T>A MANE Select | NP_004351.1:p.Ile393Asn | |
| NM_001317184.2:c.1137+1090T>A | NP_001304113.1:n.1137+1090T>A | |
| NM_001317185.2:c.-438T>A | NP_001304114.1:n.-438T>A | |
| NM_001317186.2:c.-642T>A | NP_001304115.1:n.-642T>A |