Linked Data
dbSNP Id:
rs116398133
ExAC:
16:5078994 T / A
gnomAD v3:
16-5028993-T-A
gnomAD v4:
16-5028993-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028993T>A , CM000678.2:g.5028993T>A | GRCh38 |
| NC_000016.9:g.5078994T>A , CM000678.1:g.5078994T>A | GRCh37 |
| NC_000016.8:g.5018995T>A | NCBI36 |
| NG_028152.1:g.9949A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.807A>T MANE Select | ENSP00000310998.3:p.Glu269Asp | |
| ENST00000649828.1:c.807A>T | ENSP00000498032.1:p.Glu269Asp | |
| ENST00000312251.7:c.807A>T | ENSP00000310998.3:p.Glu269Asp | |
| ENST00000381955.7:c.807A>T | ENSP00000371381.3:p.Glu269Asp | |
| ENST00000562037.1:c.568A>T | ENSP00000464994.1:n.568A>T | |
| ENST00000562346.2:c.505-808A>T | ||
| ENST00000562746.5:c.807A>T | ENSP00000455900.1:p.Glu269Asp | |
| ENST00000563578.5:c.625A>T | ||
| ENST00000564397.5:n.1166A>T | ||
| ENST00000565876.5:c.480+1392A>T | ||
| ENST00000567739.5:n.126A>T | ||
| ENST00000568202.5:n.670A>T | ||
| ENST00000569296.5:c.351A>T | ENSP00000465949.1:p.Glu117Asp | |
| NM_016256.3:c.807A>T | NP_057340.2:p.Glu269Asp | |
| XM_011522517.1:c.807A>T | XP_011520819.1:p.Glu269Asp | |
| XM_011522518.1:c.807A>T | XP_011520820.1:p.Glu269Asp | |
| XM_011522519.1:c.807A>T | XP_011520821.1:p.Glu269Asp | |
| XR_243285.1:n.834A>T | ||
| XM_011522517.3:c.807A>T | XP_011520819.1:p.Glu269Asp | |
| XR_001751908.2:n.833A>T | ||
| XR_001751909.2:n.833A>T | ||
| XR_001751910.2:n.833A>T | ||
| XR_001751911.2:n.833A>T | ||
| XR_001751912.2:n.833A>T | ||
| NM_016256.4:c.807A>T MANE Select | NP_057340.2:p.Glu269Asp |