Linked Data
ClinVar Variation Id:
1164671
dbSNP Id:
rs228942
ExAC:
22:37524619 G / T
gnomAD v2:
22-37524619-G-T
gnomAD v3:
22-37128579-G-T
gnomAD v4:
22-37128579-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37128579G>T , CM000684.2:g.37128579G>T | GRCh38 |
| NC_000022.10:g.37524619G>T , CM000684.1:g.37524619G>T | GRCh37 |
| NC_000022.9:g.35854565G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429622.6:c.1173C>A | ENSP00000402685.2:p.Asp391Glu | |
| ENST00000445595.2:c.1173C>A | ENSP00000401020.2:p.Asp391Glu | |
| ENST00000453962.6:c.1173C>A | ENSP00000403731.2:p.Asp391Glu | |
| ENST00000698883.1:c.1173C>A | ENSP00000514005.1:p.Asp391Glu | |
| ENST00000698890.1:c.1173C>A | ENSP00000514009.1:p.Asp391Glu | |
| ENST00000698891.1:c.*1165C>A | ENSP00000514010.1:n.*1165C>A | |
| ENST00000698892.1:c.1173C>A | ENSP00000514011.1:p.Asp391Glu | |
| ENST00000698893.1:c.1173C>A | ENSP00000514012.1:p.Asp391Glu | |
| ENST00000698894.1:c.1191C>A | ENSP00000514013.1:p.Asp397Glu | |
| ENST00000698895.1:c.*973C>A | ENSP00000514014.1:n.*973C>A | |
| ENST00000698896.1:c.*932C>A | ENSP00000514015.1:n.*932C>A | |
| ENST00000698902.1:c.1170C>A | ENSP00000514017.1:p.Asp390Glu | |
| ENST00000698903.1:c.1170C>A | ENSP00000514018.1:p.Asp390Glu | |
| ENST00000698904.1:c.1146C>A | ENSP00000514019.1:p.Asp382Glu | |
| ENST00000698905.1:c.*347C>A | ENSP00000514020.1:n.*347C>A | |
| ENST00000703410.1:c.903+3805C>A | ENSP00000516411.1:n.903+3805C>A | |
| ENST00000216223.10:c.1173C>A MANE Select | ENSP00000216223.5:p.Asp391Glu | |
| ENST00000216223.9:c.1173C>A | ENSP00000216223.5:p.Asp391Glu | |
| ENST00000483573.1:n.651C>A | ||
| NM_000878.3:c.1173C>A | NP_000869.1:p.Asp391Glu | |
| NM_000878.4:c.1173C>A | NP_000869.1:p.Asp391Glu | |
| NM_001346222.1:c.1173C>A | NP_001333151.1:p.Asp391Glu | |
| NM_001346223.1:c.1173C>A | NP_001333152.1:p.Asp391Glu | |
| NM_000878.5:c.1173C>A MANE Select | NP_000869.1:p.Asp391Glu | |
| NM_001346223.2:c.1173C>A | NP_001333152.1:p.Asp391Glu |