Linked Data
ClinVar Variation Id:
2065
dbSNP Id:
rs137852777
ExAC:
6:52317540 G / A
gnomAD v2:
6-52317540-G-A
gnomAD v4:
6-52452742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52452742G>A , CM000668.2:g.52452742G>A | GRCh38 |
| NC_000006.11:g.52317540G>A , CM000668.1:g.52317540G>A | GRCh37 |
| NC_000006.10:g.52425499G>A | NCBI36 |
| NG_016760.1:g.37547G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371068.11:c.628G>A MANE Select | ENSP00000360107.4:p.Asp210Asn | |
| ENST00000480623.6:c.628G>A | ENSP00000434498.2:p.Asp210Asn | |
| ENST00000635760.1:c.304G>A | ENSP00000489765.1:p.Asp102Asn | |
| ENST00000635812.1:c.628G>A | ENSP00000490859.1:p.Asp210Asn | |
| ENST00000635866.1:c.*497G>A | ENSP00000489866.1:n.*497G>A | |
| ENST00000635911.1:n.889G>A | ||
| ENST00000635984.1:c.304G>A | ENSP00000489921.1:p.Asp102Asn | |
| ENST00000635996.1:c.628G>A | ENSP00000490256.1:p.Asp210Asn | |
| ENST00000636107.1:c.628G>A | ENSP00000489680.1:p.Asp210Asn | |
| ENST00000636253.1:n.282G>A | ||
| ENST00000636311.1:n.522G>A | ||
| ENST00000636343.1:c.294G>A | ||
| ENST00000636379.1:c.340G>A | ENSP00000490622.1:p.Asp114Asn | |
| ENST00000636398.1:c.295G>A | ENSP00000489654.1:p.Asp99Asn | |
| ENST00000636489.1:c.571G>A | ENSP00000489998.1:p.Asp191Asn | |
| ENST00000636702.1:c.598G>A | ENSP00000489623.1:p.Asp200Asn | |
| ENST00000636954.1:c.571G>A | ENSP00000489966.1:p.Asp191Asn | |
| ENST00000637089.1:c.628G>A | ENSP00000489854.1:p.Asp210Asn | |
| ENST00000637200.1:c.*644G>A | ENSP00000490567.1:n.*644G>A | |
| ENST00000637263.1:c.628G>A | ENSP00000489700.1:p.Asp210Asn | |
| ENST00000637340.1:n.1296G>A | ||
| ENST00000637353.1:c.628G>A | ENSP00000490441.1:p.Asp210Asn | |
| ENST00000637602.1:c.*329G>A | ENSP00000490074.1:n.*329G>A | |
| ENST00000637849.1:n.692G>A | ||
| ENST00000637892.1:n.832G>A | ||
| ENST00000638075.1:c.10G>A | ENSP00000490711.1:p.Asp4Asn | |
| ENST00000371068.9:c.628G>A | ENSP00000360107.4:p.Asp210Asn | |
| ENST00000480623.5:c.628G>A | ENSP00000434498.1:p.Asp210Asn | |
| ENST00000538167.2:c.571G>A | ENSP00000444521.1:p.Asp191Asn | |
| NM_001172420.1:c.571G>A | NP_001165891.1:p.Asp191Asn | |
| NM_018100.3:c.628G>A | NP_060570.2:p.Asp210Asn | |
| NR_033327.1:n.843G>A | ||
| NM_018100.4:c.628G>A MANE Select | NP_060570.2:p.Asp210Asn | |
| NM_001172420.2:c.571G>A | NP_001165891.1:p.Asp191Asn | |
| NR_033327.2:n.697G>A |