COSMIC:
COSM4002872 (not active)
Revel Score:
ENST00000506883
0.044
ENST00000511045
0.044
ENST00000457717
0.044
ENST00000265517 (MANE Select)
0.044
ENST00000538053
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20446011 (EAS)
Genomes Max Group AF
0.1761445 (EAS)
Exomes Max Group AF
0.20712388 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99589746A>G , CM000666.2:g.99589746A>G | GRCh38 |
| NC_000004.11:g.100510903A>G , CM000666.1:g.100510903A>G | GRCh37 |
| NC_000004.10:g.100729926A>G | NCBI36 |
| NG_011469.1:g.30664A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.497A>G MANE Select | ENSP00000265517.5:p.Asn166Ser | |
| ENST00000457717.6:c.497A>G | ENSP00000400821.1:p.Asn166Ser | |
| ENST00000511045.6:c.248A>G | ENSP00000427679.2:p.Asn83Ser | |
| ENST00000265517.9:c.497A>G | ENSP00000265517.5:p.Asn166Ser | |
| ENST00000457717.5:c.497A>G | ENSP00000400821.1:p.Asn166Ser | |
| ENST00000506883.5:c.527A>G | ENSP00000426755.1:p.Asn176Ser | |
| ENST00000511045.5:c.578A>G | ENSP00000427679.1:p.Asn193Ser | |
| ENST00000619629.1:c.497A>G | ENSP00000482850.1:p.Asn166Ser | |
| NM_000253.3:c.497A>G | NP_000244.2:p.Asn166Ser | |
| NM_001300785.1:c.578A>G | NP_001287714.1:p.Asn193Ser | |
| NM_000253.4:c.497A>G | NP_000244.2:p.Asn166Ser | |
| NM_001300785.2:c.248A>G | NP_001287714.2:p.Asn83Ser | |
| NM_001386140.1:c.497A>G MANE Select | NP_001373069.1:p.Asn166Ser |