Revel Score:
ENST00000297784 (MANE Select)
0.637
ENST00000340019
0.637
ENST00000396235
0.637
ENST00000537917
0.637
ENST00000538054
0.637
ENST00000542143
0.637
ENST00000396237
0.637
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72751910A>T , CM000671.2:g.72751910A>T | GRCh38 |
| NC_000009.11:g.75366826A>T , CM000671.1:g.75366826A>T | GRCh37 |
| NC_000009.10:g.74556646A>T | NCBI36 |
| NG_008213.1:g.235110A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.596A>T MANE Select | ENSP00000297784.6:p.Asn199Ile | |
| ENST00000644967.1:c.158A>T | ENSP00000496159.1:p.Asn53Ile | |
| ENST00000645053.1:c.158A>T | ENSP00000493838.1:p.Asn53Ile | |
| ENST00000645208.2:c.596A>T | ENSP00000494684.1:p.Asn199Ile | |
| ENST00000645773.1:c.470A>T | ENSP00000493698.1:p.Asn157Ile | |
| ENST00000645787.1:n.636A>T | ||
| ENST00000646619.1:c.158A>T | ENSP00000493726.1:p.Asn53Ile | |
| ENST00000650689.1:n.894A>T | ||
| ENST00000651183.1:c.158A>T | ENSP00000498723.1:p.Asn53Ile | |
| ENST00000297784.9:c.596A>T | ENSP00000297784.5:p.Asn199Ile | |
| ENST00000340019.4:c.596A>T | ENSP00000341433.3:p.Asn199Ile | |
| NM_138691.2:c.596A>T | NP_619636.2:p.Asn199Ile | |
| XM_011518213.1:c.1184A>T | XP_011516515.1:p.Asn395Ile | |
| XM_017014256.1:c.599A>T | XP_016869745.1:p.Asn200Ile | |
| NM_138691.3:c.596A>T MANE Select | NP_619636.2:p.Asn199Ile |