Linked Data
ClinVar Variation Id:
537216
ClinVar RCV Id:
RCV000646011
dbSNP Id:
rs368160432
gnomAD v4:
2-108771762-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108771762A>T , CM000664.2:g.108771762A>T | GRCh38 |
| NC_000002.11:g.109388218A>T , CM000664.1:g.109388218A>T | GRCh37 |
| NC_000002.10:g.108754650A>T | NCBI36 |
| NG_012210.1:g.57282A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697737.1:c.2664A>T | ENSP00000513426.1:p.Glu888Asp | |
| ENST00000697740.1:c.2586A>T | ENSP00000513427.1:p.Glu862Asp | |
| ENST00000697744.1:c.2777A>T | ||
| ENST00000697745.1:c.2777A>T | ||
| ENST00000697746.1:n.4035A>T | ||
| ENST00000697747.1:c.620A>T | ||
| ENST00000697748.1:n.3525A>T | ||
| ENST00000283195.11:c.7911A>T MANE Select | ENSP00000283195.6:p.Glu2637Asp | |
| ENST00000283195.10:c.7911A>T | ENSP00000283195.6:p.Glu2637Asp | |
| NM_006267.4:c.7911A>T | NP_006258.3:p.Glu2637Asp | |
| XM_005264002.1:c.7989A>T | XP_005264059.1:p.Glu2663Asp | |
| XM_005264003.1:c.7989A>T | XP_005264060.1:p.Glu2663Asp | |
| XM_005264004.1:c.7911A>T | XP_005264061.1:p.Glu2637Asp | |
| XM_005264005.3:c.7911A>T | XP_005264062.1:p.Glu2637Asp | |
| XM_005264007.1:c.5061A>T | XP_005264064.1:p.Glu1687Asp | |
| XM_011511575.1:c.7986A>T | XP_011509877.1:p.Glu2662Asp | |
| XM_011511576.1:c.7812A>T | XP_011509878.1:p.Glu2604Asp | |
| XM_011511577.1:c.5277A>T | XP_011509879.1:p.Glu1759Asp | |
| XM_011511578.1:c.5058A>T | XP_011509880.1:p.Glu1686Asp | |
| XM_005264002.3:c.7989A>T | XP_005264059.1:p.Glu2663Asp | |
| XM_005264003.3:c.7989A>T | XP_005264060.1:p.Glu2663Asp | |
| XM_005264004.3:c.7911A>T | XP_005264061.1:p.Glu2637Asp | |
| XM_005264005.4:c.7911A>T | XP_005264062.1:p.Glu2637Asp | |
| XM_005264007.3:c.5061A>T | XP_005264064.1:p.Glu1687Asp | |
| XM_011511575.2:c.7986A>T | XP_011509877.1:p.Glu2662Asp | |
| XM_011511576.3:c.7812A>T | XP_011509878.1:p.Glu2604Asp | |
| XM_011511578.2:c.5058A>T | XP_011509880.1:p.Glu1686Asp | |
| XM_017004623.2:c.7989A>T | XP_016860112.1:p.Glu2663Asp | |
| NM_006267.5:c.7911A>T MANE Select | NP_006258.3:p.Glu2637Asp |