Linked Data
ClinVar Variation Id:
529394
dbSNP Id:
rs1213279792
gnomAD v2:
2-73717069-A-T
gnomAD v4:
2-73489942-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489942A>T , CM000664.2:g.73489942A>T | GRCh38 |
| NC_000002.11:g.73717069A>T , CM000664.1:g.73717069A>T | GRCh37 |
| NC_000002.10:g.73570577A>T | NCBI36 |
| NG_011690.1:g.109190A>T , LRG_741:g.109190A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7602A>T | ENSP00000507671.1:p.Glu2534Asp | |
| ENST00000682801.1:c.7602A>T | ENSP00000507862.1:p.Glu2534Asp | |
| ENST00000682859.1:c.7602A>T | ENSP00000508222.1:p.Glu2534Asp | |
| ENST00000683791.1:c.994A>T | ||
| ENST00000684460.1:c.5054A>T | ||
| ENST00000684548.1:c.7602A>T | ENSP00000507421.1:p.Glu2534Asp | |
| ENST00000684590.1:c.2049A>T | ENSP00000507376.1:p.Glu683Asp | |
| ENST00000684656.1:c.5054A>T | ||
| ENST00000613296.6:c.7983A>T MANE Select | ENSP00000482968.1:p.Glu2661Asp | |
| ENST00000651434.1:c.896-29833A>T | ||
| ENST00000423048.5:c.2814A>T | ENSP00000399833.1:p.Glu938Asp | |
| ENST00000484298.5:c.7857A>T | ENSP00000478155.1:p.Glu2619Asp | |
| ENST00000613296.4:c.7983A>T | ENSP00000482968.1:p.Glu2661Asp | |
| ENST00000614410.4:c.7983A>T | ENSP00000479094.1:p.Glu2661Asp | |
| ENST00000620466.4:n.1786A>T | ||
| NM_015120.4:c.7986A>T , LRG_741t1:c.7986A>T | NP_055935.4:p.Glu2662Asp | |
| NM_001378454.1:c.7983A>T MANE Select | NP_001365383.1:p.Glu2661Asp |