Revel Score:
ENST00000302118 (MANE Select)
0.432
ENST00000543384
0.432
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003474 (AFR)
Genomes Max Group AF
0.00003253 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052364G>A , CM000663.2:g.55052364G>A | GRCh38 |
| NC_000001.10:g.55518037G>A , CM000663.1:g.55518037G>A | GRCh37 |
| NC_000001.9:g.55290625G>A | NCBI36 |
| NG_009061.1:g.17818G>A , LRG_275:g.17818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.610G>A | ENSP00000501161.2:p.Asp204Asn | |
| ENST00000710286.1:c.967G>A | ENSP00000518176.1:p.Asp323Asn | |
| ENST00000673726.1:c.*106G>A | ENSP00000501004.1:n.*106G>A | |
| ENST00000673903.1:c.235G>A | ENSP00000501257.1:p.Asp79Asn | |
| ENST00000302118.5:c.610G>A MANE Select | ENSP00000303208.5:p.Asp204Asn | |
| ENST00000490692.1:n.1431G>A | ||
| NM_174936.3:c.610G>A , LRG_275t1:c.610G>A | NP_777596.2:p.Asp204Asn | |
| NR_110451.1:n.269G>A | ||
| NM_174936.4:c.610G>A MANE Select | NP_777596.2:p.Asp204Asn | |
| NR_110451.2:n.269G>A |