COSMIC:
COSM5019741 (not active)
Revel Score:
ENST00000370192 (MANE Select)
0.432
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02912433 (MID)
Genomes Max Group AF
0.01870833 (NFE)
Exomes Max Group AF
0.0291407 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97515865C>T , CM000663.2:g.97515865C>T | GRCh38 |
| NC_000001.10:g.97981421C>T , CM000663.1:g.97981421C>T | GRCh37 |
| NC_000001.9:g.97754009C>T | NCBI36 |
| NG_008807.2:g.410195G>A , LRG_722:g.410195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1601G>A MANE Select | ENSP00000359211.3:p.Ser534Asn | |
| ENST00000370192.7:c.1601G>A | ENSP00000359211.3:p.Ser534Asn | |
| NM_000110.3:c.1601G>A , LRG_722t1:c.1601G>A | NP_000101.2:p.Ser534Asn | |
| XM_005270562.3:c.1524+33695G>A | XP_005270619.2:n.1524+33695G>A | |
| XM_006710397.2:c.1601G>A | XP_006710460.1:p.Ser534Asn | |
| XM_006710397.3:c.1601G>A | XP_006710460.1:p.Ser534Asn | |
| XM_017000507.1:c.1490G>A | XP_016855996.1:p.Ser497Asn | |
| XM_017000508.2:c.1106G>A | XP_016855997.1:p.Ser369Asn | |
| XM_017000509.2:c.1106G>A | XP_016855998.1:p.Ser369Asn | |
| XM_017000510.1:c.1106G>A | XP_016855999.1:p.Ser369Asn | |
| NM_000110.4:c.1601G>A MANE Select | NP_000101.2:p.Ser534Asn |