Linked Data
ClinVar Variation Id:
1525523
ClinVar RCV Id:
RCV002050376
dbSNP Id:
rs1001137639
gnomAD v4:
16-81889195-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81889195C>A , CM000678.2:g.81889195C>A | GRCh38 |
| NC_000016.9:g.81922800C>A , CM000678.1:g.81922800C>A | GRCh37 |
| NC_000016.8:g.80480301C>A | NCBI36 |
| NG_032019.2:g.155099C>A , LRG_376:g.155099C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.789C>A | ENSP00000455533.2:p.Asn263Lys | |
| ENST00000697561.1:c.*218C>A | ENSP00000513337.1:n.*218C>A | |
| ENST00000697562.1:c.789C>A | ENSP00000513338.1:p.Asn263Lys | |
| ENST00000697563.1:c.*635C>A | ENSP00000513339.1:n.*635C>A | |
| ENST00000697564.1:c.672C>A | ENSP00000513340.1:p.Asn224Lys | |
| ENST00000697565.1:n.729C>A | ||
| ENST00000697581.1:c.*783C>A | ENSP00000513346.1:n.*783C>A | |
| ENST00000697582.1:c.789C>A | ENSP00000513347.1:p.Asn263Lys | |
| ENST00000697583.1:c.588C>A | ENSP00000513349.1:p.Asn196Lys | |
| ENST00000697584.1:c.588C>A | ENSP00000513350.1:p.Asn196Lys | |
| ENST00000697585.1:c.588C>A | ENSP00000513351.1:p.Asn196Lys | |
| ENST00000697586.1:c.588C>A | ENSP00000513352.1:p.Asn196Lys | |
| ENST00000697587.1:c.588C>A | ENSP00000513353.1:p.Asn196Lys | |
| ENST00000564138.6:c.789C>A MANE Select | ENSP00000482457.1:p.Asn263Lys | |
| ENST00000359376.7:c.789C>A | ENSP00000352336.4:p.Asn263Lys | |
| ENST00000563193.1:c.97C>A | ||
| ENST00000564138.5:c.789C>A | ENSP00000482457.1:p.Asn263Lys | |
| ENST00000567980.5:n.1033C>A | ||
| NM_002661.4:c.789C>A | NP_002652.2:p.Asn263Lys | |
| XM_011523108.1:c.903C>A | XP_011521410.1:p.Asn301Lys | |
| NM_002661.5:c.789C>A MANE Select | NP_002652.2:p.Asn263Lys |