Revel Score:
ENST00000355832 (MANE Select)
0.339
ENST00000374129
0.339
ENST00000542458
0.339
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00157325 (NFE)
Genomes Max Group AF
0.00154859 (NFE)
Exomes Max Group AF
0.00156165 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49459074T>G , CM000672.2:g.49459074T>G | GRCh38 |
| NC_000010.10:g.50667120T>G , CM000672.1:g.50667120T>G | GRCh37 |
| NC_000010.9:g.50337126T>G | NCBI36 |
| NG_009442.1:g.85028A>C , LRG_465:g.85028A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.4223A>C MANE Select | ENSP00000348089.5:p.Glu1408Ala | |
| ENST00000679552.1:n.2432A>C | ||
| ENST00000679871.1:n.1369A>C | ||
| ENST00000679974.1:n.1272A>C | ||
| ENST00000681632.1:n.5626A>C | ||
| ENST00000681659.1:c.4064A>C | ENSP00000505631.1:p.Glu1355Ala | |
| ENST00000355832.9:c.4223A>C | ENSP00000348089.5:p.Glu1408Ala | |
| ENST00000623073.3:c.*2519A>C | ENSP00000485650.1:n.*2519A>C | |
| ENST00000623115.3:c.2333A>C | ENSP00000485321.1:p.Glu778Ala | |
| ENST00000624341.3:c.2055A>C | ||
| NM_000124.3:c.4223A>C | NP_000115.1:p.Glu1408Ala | |
| XR_945953.1:n.243-12491T>G | ||
| NM_001346440.1:c.4223A>C | NP_001333369.1:p.Glu1408Ala | |
| NM_000124.4:c.4223A>C MANE Select | NP_000115.1:p.Glu1408Ala | |
| NM_001346440.2:c.4223A>C | NP_001333369.1:p.Glu1408Ala |