Linked Data
ClinVar Variation Id:
184593
dbSNP Id:
rs778093337
ExAC:
11:94153342 A / T
gnomAD v2:
11-94153342-A-T
gnomAD v3:
11-94420176-A-T
gnomAD v4:
11-94420176-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94420176A>T , CM000673.2:g.94420176A>T | GRCh38 |
| NC_000011.9:g.94153342A>T , CM000673.1:g.94153342A>T | GRCh37 |
| NC_000011.8:g.93792990A>T | NCBI36 |
| NG_007261.1:g.78699T>A , LRG_85:g.78699T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.2076T>A MANE Select | ENSP00000325863.4:p.Asp692Glu | |
| ENST00000323929.7:c.2076T>A | ENSP00000325863.3:p.Asp692Glu | |
| ENST00000323977.7:c.1992T>A | ENSP00000326094.3:p.Asp664Glu | |
| ENST00000393241.8:c.2073T>A | ENSP00000376933.4:p.Asp691Glu | |
| ENST00000407439.7:c.2085T>A | ENSP00000385614.3:p.Asp695Glu | |
| NM_005590.3:c.1992T>A | NP_005581.2:p.Asp664Glu | |
| NM_005591.3:c.2076T>A , LRG_85t1:c.2076T>A | NP_005582.1:p.Asp692Glu | |
| XM_005274008.2:c.1608T>A | XP_005274065.1:p.Asp536Glu | |
| XM_006718842.2:c.2073T>A | XP_006718905.1:p.Asp691Glu | |
| XM_011542837.1:c.2076T>A | XP_011541139.1:p.Asp692Glu | |
| XR_947828.1:n.2372T>A | ||
| NM_001330347.1:c.2073T>A | NP_001317276.1:p.Asp691Glu | |
| XM_005274008.3:c.1608T>A | XP_005274065.1:p.Asp536Glu | |
| XM_006718842.3:c.2073T>A | XP_006718905.1:p.Asp691Glu | |
| XM_011542837.2:c.2076T>A | XP_011541139.1:p.Asp692Glu | |
| XM_017017772.1:c.2076T>A | XP_016873261.1:p.Asp692Glu | |
| XR_947828.2:n.2372T>A | ||
| NM_001330347.2:c.2073T>A | NP_001317276.1:p.Asp691Glu | |
| NM_005590.4:c.1992T>A | NP_005581.2:p.Asp664Glu | |
| NM_005591.4:c.2076T>A MANE Select | NP_005582.1:p.Asp692Glu |