Revel Score:
ENST00000376573 (MANE Select)
0.139
ENST00000323883
0.139
ENST00000545335
0.139
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.22550699T>A , CM000672.2:g.22550699T>A | GRCh38 |
| NC_000010.10:g.22839628T>A , CM000672.1:g.22839628T>A | GRCh37 |
| NC_000010.9:g.22879634T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376573.9:c.752A>T MANE Select | ENSP00000365757.4:p.Asn251Ile | |
| ENST00000323883.11:c.332A>T | ENSP00000326294.7:p.Asn111Ile | |
| ENST00000376573.8:c.752A>T | ENSP00000365757.4:p.Asn251Ile | |
| ENST00000545335.5:c.575A>T | ENSP00000442098.1:p.Asn192Ile | |
| ENST00000604912.1:c.290A>T | ENSP00000473858.1:p.Asn97Ile | |
| NM_005028.4:c.752A>T | NP_005019.2:p.Asn251Ile | |
| XM_006717450.2:c.599A>T | XP_006717513.1:p.Asn200Ile | |
| XM_011519494.1:c.713A>T | XP_011517796.1:p.Asn238Ile | |
| XM_011519495.1:c.665A>T | XP_011517797.1:p.Asn222Ile | |
| XM_011519496.1:c.575A>T | XP_011517798.1:p.Asn192Ile | |
| NM_001330062.1:c.575A>T | NP_001316991.1:p.Asn192Ile | |
| XM_017016330.1:c.575A>T | XP_016871819.1:p.Asn192Ile | |
| XM_017016331.1:c.575A>T | XP_016871820.1:p.Asn192Ile | |
| XM_017016332.1:c.422A>T | XP_016871821.1:p.Asn141Ile | |
| NM_005028.5:c.752A>T MANE Select | NP_005019.2:p.Asn251Ile | |
| NM_001330062.2:c.575A>T | NP_001316991.1:p.Asn192Ile |