Linked Data
ClinVar Variation Id:
128964
dbSNP Id:
rs369503191
ExAC:
6:52355109 A / C
gnomAD v2:
6-52355109-A-C
gnomAD v3:
6-52490311-A-C
gnomAD v4:
6-52490311-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52490311A>C , CM000668.2:g.52490311A>C | GRCh38 |
| NC_000006.11:g.52355109A>C , CM000668.1:g.52355109A>C | GRCh37 |
| NC_000006.10:g.52463068A>C | NCBI36 |
| NG_016760.1:g.75116A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1812A>C MANE Select | ENSP00000360107.4:p.Glu604Asp | |
| ENST00000480623.6:c.*368A>C | ENSP00000434498.2:n.*368A>C | |
| ENST00000481466.2:n.197A>C | ||
| ENST00000635760.1:c.1488A>C | ENSP00000489765.1:p.Glu496Asp | |
| ENST00000635866.1:c.*1681A>C | ENSP00000489866.1:n.*1681A>C | |
| ENST00000635911.1:n.3330A>C | ||
| ENST00000635996.1:c.1812A>C | ENSP00000490256.1:p.Glu604Asp | |
| ENST00000636311.1:n.1706A>C | ||
| ENST00000636343.1:c.1478A>C | ||
| ENST00000636379.1:c.1524A>C | ENSP00000490622.1:p.Glu508Asp | |
| ENST00000636398.1:c.1512A>C | ENSP00000489654.1:n.1512A>C | |
| ENST00000636489.1:c.1755A>C | ENSP00000489998.1:p.Glu585Asp | |
| ENST00000636616.1:n.1373A>C | ||
| ENST00000636702.1:c.1782A>C | ENSP00000489623.1:p.Glu594Asp | |
| ENST00000636954.1:c.1755A>C | ENSP00000489966.1:p.Glu585Asp | |
| ENST00000637089.1:c.1812A>C | ENSP00000489854.1:p.Glu604Asp | |
| ENST00000637121.1:n.1614A>C | ||
| ENST00000637340.1:n.3737A>C | ||
| ENST00000637353.1:c.1812A>C | ENSP00000490441.1:p.Glu604Asp | |
| ENST00000637602.1:c.*1513A>C | ENSP00000490074.1:n.*1513A>C | |
| ENST00000371068.9:c.1812A>C | ENSP00000360107.4:p.Glu604Asp | |
| ENST00000480623.5:c.*2232A>C | ENSP00000434498.1:n.*2232A>C | |
| ENST00000481466.1:n.291A>C | ||
| ENST00000538167.2:c.1755A>C | ENSP00000444521.1:p.Glu585Asp | |
| NM_001172420.1:c.1755A>C | NP_001165891.1:p.Glu585Asp | |
| NM_018100.3:c.1812A>C | NP_060570.2:p.Glu604Asp | |
| NR_033327.1:n.3284A>C | ||
| NM_018100.4:c.1812A>C MANE Select | NP_060570.2:p.Glu604Asp | |
| NM_001172420.2:c.1755A>C | NP_001165891.1:p.Glu585Asp | |
| NR_033327.2:n.3138A>C |