ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45141330C>A , CM000677.2:g.45141330C>A | GRCh38 |
| NC_000015.9:g.45433528C>A , CM000677.1:g.45433528C>A | GRCh37 |
| NC_000015.8:g.43220820C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321429.8:c.1604C>A | ENSP00000317997.4:p.Thr535Asn | |
| ENST00000389037.7:c.1604C>A MANE Select | ENSP00000373689.3:p.Thr535Asn | |
| ENST00000561166.1:c.542C>A | ENSP00000454065.1:p.Thr181Asn | |
| ENST00000561220.6:c.*96C>A | ENSP00000452623.1:n.*96C>A | |
| NM_017434.4:c.1604C>A | NP_059130.2:p.Thr535Asn | |
| NM_175940.2:c.1604C>A | NP_787954.1:p.Thr535Asn | |
| XM_011521681.1:c.1487C>A | XP_011519983.1:p.Thr496Asn | |
| XM_011521682.1:c.542C>A | XP_011519984.1:p.Thr181Asn | |
| XM_011521681.2:c.1487C>A | XP_011519983.1:p.Thr496Asn | |
| NM_175940.3:c.1604C>A MANE Select | NP_787954.1:p.Thr535Asn | |
| NM_017434.5:c.1604C>A | NP_059130.2:p.Thr535Asn |