Linked Data
dbSNP Id:
rs776612935
ExAC:
20:45355617 A / C
gnomAD v2:
20-45355617-A-C
gnomAD v3:
20-46726978-A-C
gnomAD v4:
20-46726978-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46726978A>C , CM000682.2:g.46726978A>C | GRCh38 |
| NC_000020.10:g.45355617A>C , CM000682.1:g.45355617A>C | GRCh37 |
| NC_000020.9:g.44789024A>C | NCBI36 |
| NG_016284.1:g.22339A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1403A>C MANE Select | ENSP00000352216.2:p.Asp468Ala | |
| ENST00000359271.3:c.1403A>C | ENSP00000352216.2:p.Asp468Ala | |
| NM_030777.3:c.1403A>C | NP_110404.1:p.Asp468Ala | |
| XM_011529060.1:c.1466A>C | XP_011527362.1:p.Asp489Ala | |
| XM_011529061.1:c.1412A>C | XP_011527363.1:p.Asp471Ala | |
| XM_011529062.1:c.1515A>C | XP_011527364.1:p.Arg505= | |
| XM_011529063.1:c.1466A>C | XP_011527365.1:p.Asp489Ala | |
| XM_011529064.1:c.1515A>C | XP_011527366.1:p.Arg505= | |
| XM_011529065.1:c.1466A>C | XP_011527367.1:p.Asp489Ala | |
| XR_936641.1:n.1651A>C | ||
| XM_011529060.2:c.1466A>C | XP_011527362.1:p.Asp489Ala | |
| XM_011529061.2:c.1412A>C | XP_011527363.1:p.Asp471Ala | |
| XM_011529062.2:c.1515A>C | XP_011527364.1:p.Arg505= | |
| XM_011529063.2:c.1466A>C | XP_011527365.1:p.Asp489Ala | |
| XM_011529064.2:c.1515A>C | XP_011527366.1:p.Arg505= | |
| XM_011529065.2:c.1466A>C | XP_011527367.1:p.Asp489Ala | |
| XM_017028087.2:c.1403A>C | XP_016883576.1:p.Asp468Ala | |
| XR_936641.2:n.1638A>C | ||
| NM_030777.4:c.1403A>C MANE Select | NP_110404.1:p.Asp468Ala |