Linked Data
ClinVar Variation Id:
2040569
ClinVar RCV Id:
RCV002886482
dbSNP Id:
rs969364116
gnomAD v3:
8-115414191-A-T
gnomAD v4:
8-115414191-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115414191A>T , CM000670.2:g.115414191A>T | GRCh38 |
| NC_000008.10:g.116426419A>T , CM000670.1:g.116426419A>T | GRCh37 |
| NC_000008.9:g.116495595A>T | NCBI36 |
| NG_012383.3:g.259811T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.3717T>A MANE Select | ENSP00000379065.3:p.Asp1239Glu | |
| ENST00000640765.1:c.3678T>A | ENSP00000492037.1:p.Asp1226Glu | |
| ENST00000220888.9:c.3678T>A | ENSP00000220888.5:p.Asp1226Glu | |
| ENST00000395715.7:c.3717T>A | ENSP00000379065.3:p.Asp1239Glu | |
| ENST00000519076.5:c.2940T>A | ENSP00000428910.1:p.Asp980Glu | |
| ENST00000520276.5:c.3690T>A | ENSP00000428680.1:p.Asp1230Glu | |
| NM_001282902.2:c.3690T>A | NP_001269831.1:p.Asp1230Glu | |
| NM_001282903.2:c.3696T>A | NP_001269832.1:p.Asp1232Glu | |
| NM_014112.4:c.3717T>A | NP_054831.2:p.Asp1239Glu | |
| XM_005251049.2:c.3678T>A | XP_005251106.1:p.Asp1226Glu | |
| XM_006716625.1:c.3717T>A | XP_006716688.1:p.Asp1239Glu | |
| XM_011517264.1:c.3717T>A | XP_011515566.1:p.Asp1239Glu | |
| XM_011517265.1:c.3717T>A | XP_011515567.1:p.Asp1239Glu | |
| XM_011517266.1:c.3717T>A | XP_011515568.1:p.Asp1239Glu | |
| XM_011517267.1:c.3696T>A | XP_011515569.1:p.Asp1232Glu | |
| XM_011517268.1:c.3678T>A | XP_011515570.1:p.Asp1226Glu | |
| NM_001330599.1:c.3678T>A | NP_001317528.1:p.Asp1226Glu | |
| XM_011517264.2:c.3717T>A | XP_011515566.1:p.Asp1239Glu | |
| XM_011517266.3:c.3717T>A | XP_011515568.1:p.Asp1239Glu | |
| XM_011517268.2:c.3678T>A | XP_011515570.1:p.Asp1226Glu | |
| NM_001282902.3:c.3690T>A | NP_001269831.1:p.Asp1230Glu | |
| NM_001282903.3:c.3696T>A | NP_001269832.1:p.Asp1232Glu | |
| NM_001330599.2:c.3678T>A | NP_001317528.1:p.Asp1226Glu | |
| NM_014112.5:c.3717T>A MANE Select | NP_054831.2:p.Asp1239Glu |