Revel Score:
ENST00000479665 (MANE Select)
0.032
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041564 (AFR)
Genomes Max Group AF
0.00020496 (AFR)
Exomes Max Group AF
0.00057183 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28324203C>T , CM000665.2:g.28324203C>T | GRCh38 |
| NC_000003.11:g.28365694C>T , CM000665.1:g.28365694C>T | GRCh37 |
| NC_000003.10:g.28340698C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466830.6:c.*4574C>T (CMC1) MANE Select | ENSP00000418348.1:n.*4574C>T | |
| ENST00000479665.6:c.1018G>A (AZI2) MANE Select | ENSP00000419371.1:p.Gly340Ser | |
| ENST00000295748.7:n.1277G>A (AZI2) | ||
| ENST00000429369.5:c.158+2629G>A (AZI2) | ||
| ENST00000466830.5:c.*4574C>T (CMC1) | ENSP00000418348.1:n.*4574C>T | |
| ENST00000476174.2:n.423G>A (AZI2) | ||
| ENST00000479665.5:c.1018G>A (AZI2) | ENSP00000419371.1:p.Gly340Ser | |
| NM_001271650.1:c.682G>A (AZI2) | NP_001258579.1:p.Gly228Ser | |
| NM_022461.4:c.1018G>A (AZI2) | NP_071906.1:p.Gly340Ser | |
| XM_005265392.1:c.1018G>A (AZI2) | XP_005265449.1:p.Gly340Ser | |
| XM_005265393.1:c.577G>A (AZI2) | XP_005265450.1:p.Gly193Ser | |
| XM_011534009.1:c.1027G>A (AZI2) | XP_011532311.1:p.Gly343Ser | |
| XM_005265392.3:c.1018G>A (AZI2) | XP_005265449.1:p.Gly340Ser | |
| XM_011534009.2:c.1027G>A (AZI2) | XP_011532311.1:p.Gly343Ser | |
| NM_022461.5:c.1018G>A (AZI2) MANE Select | NP_071906.1:p.Gly340Ser | |
| NM_001271650.2:c.682G>A (AZI2) | NP_001258579.1:p.Gly228Ser | |
| NM_001331185.2:c.*4574C>T (CMC1) | NP_001318114.1:n.*4574C>T | |
| NM_001331186.2:c.*4574C>T (CMC1) | NP_001318115.1:n.*4574C>T | |
| NM_001331187.2:c.*4574C>T (CMC1) | NP_001318116.1:n.*4574C>T | |
| NM_001331189.2:c.*4574C>T (CMC1) | NP_001318118.1:n.*4574C>T | |
| NM_001331190.2:c.*4574C>T (CMC1) | NP_001318119.1:n.*4574C>T | |
| NM_182523.2:c.*4574C>T (CMC1) MANE Select | NP_872329.1:n.*4574C>T | |
| NR_138585.2:n.5087C>T (CMC1) |