Revel Score:
ENST00000374498
0.936
ENST00000374497
0.936
ENST00000456977
0.936
ENST00000429356
0.936
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0033333 (AFR)
Genomes Max Group AF
0.00354162 (AFR)
Exomes Max Group AF
0.00275997 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796183C>T , CM000663.2:g.23796183C>T | GRCh38 |
| NC_000001.10:g.24122673C>T , CM000663.1:g.24122673C>T | GRCh37 |
| NC_000001.9:g.23995260C>T | NCBI36 |
| NG_007068.1:g.9622G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.956G>A MANE Select | ENSP00000483375.1:p.Gly319Glu | |
| ENST00000374497.7:c.956G>A | ENSP00000363621.3:p.Gly319Glu | |
| ENST00000429356.5:c.686G>A | ENSP00000398585.1:p.Gly229Glu | |
| ENST00000456977.5:c.236G>A | ENSP00000397045.1:p.Gly79Glu | |
| ENST00000459934.5:n.1184G>A | ||
| ENST00000469556.1:n.703G>A | ||
| ENST00000481736.5:n.1360G>A | ||
| ENST00000617979.4:c.956G>A | ENSP00000483375.1:p.Gly319Glu | |
| NM_000403.3:c.956G>A | NP_000394.2:p.Gly319Glu | |
| NM_001008216.1:c.956G>A | NP_001008217.1:p.Gly319Glu | |
| NM_001127621.1:c.956G>A | NP_001121093.1:p.Gly319Glu | |
| NM_001008216.2:c.956G>A MANE Select | NP_001008217.1:p.Gly319Glu | |
| NM_000403.4:c.956G>A | NP_000394.2:p.Gly319Glu | |
| NM_001127621.2:c.956G>A | NP_001121093.1:p.Gly319Glu |