Revel Score:
ENST00000366513 (MANE Select)
0.056
ENST00000366512
0.056
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.246647823A>T , CM000663.2:g.246647823A>T | GRCh38 |
| NC_000001.10:g.246811125A>T , CM000663.1:g.246811125A>T | GRCh37 |
| NC_000001.9:g.244877748A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366513.9:c.1622A>T MANE Select | ENSP00000355470.4:p.Asn541Ile | |
| ENST00000366512.7:c.1622A>T | ENSP00000355469.3:p.Asn541Ile | |
| ENST00000366513.8:c.1622A>T | ENSP00000355470.4:p.Asn541Ile | |
| ENST00000483271.1:n.2355A>T | ||
| NM_001139459.1:c.1622A>T | NP_001132931.1:p.Asn541Ile | |
| NM_152609.2:c.1622A>T | NP_689822.2:p.Asn541Ile | |
| XM_005273081.3:c.1622A>T | XP_005273138.2:p.Asn541Ile | |
| XM_005273083.3:c.1127A>T | XP_005273140.1:p.Asn376Ile | |
| XM_006711751.2:c.1256A>T | XP_006711814.1:p.Asn419Ile | |
| XM_011544110.1:c.1622A>T | XP_011542412.1:p.Asn541Ile | |
| XM_011544111.1:c.1622A>T | XP_011542413.1:p.Asn541Ile | |
| XM_011544112.1:c.1214A>T | XP_011542414.1:p.Asn405Ile | |
| XM_011544113.1:c.1127A>T | XP_011542415.1:p.Asn376Ile | |
| XM_011544114.1:c.1100A>T | XP_011542416.1:p.Asn367Ile | |
| XM_005273083.5:c.1127A>T | XP_005273140.1:p.Asn376Ile | |
| XM_011544110.3:c.1622A>T | XP_011542412.1:p.Asn541Ile | |
| XM_011544113.2:c.1127A>T | XP_011542415.1:p.Asn376Ile | |
| XM_011544114.2:c.1100A>T | XP_011542416.1:p.Asn367Ile | |
| XM_017000487.1:c.1256A>T | XP_016855976.1:p.Asn419Ile | |
| XM_017000488.1:c.1100A>T | XP_016855977.1:p.Asn367Ile | |
| XM_017000489.2:c.1100A>T | XP_016855978.1:p.Asn367Ile | |
| XM_024453697.1:c.995A>T | XP_024309465.1:p.Asn332Ile | |
| NM_152609.3:c.1622A>T MANE Select | NP_689822.2:p.Asn541Ile | |
| NM_001139459.2:c.1622A>T | NP_001132931.1:p.Asn541Ile |