Linked Data
ClinVar Variation Id:
594629
ClinVar RCV Id:
RCV000729965
dbSNP Id:
rs146747335
ExAC:
7:137776597 T / A
gnomAD v2:
7-137776597-T-A
gnomAD v4:
7-138091851-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091851T>A , CM000669.2:g.138091851T>A | GRCh38 |
| NC_000007.13:g.137776597T>A , CM000669.1:g.137776597T>A | GRCh37 |
| NC_000007.12:g.137427137T>A | NCBI36 |
| NG_023342.1:g.20420T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.345T>A MANE Select | ENSP00000242375.3:p.Asp115Glu | |
| ENST00000242375.7:c.345T>A | ENSP00000242375.3:p.Asp115Glu | |
| ENST00000411726.6:c.345T>A | ENSP00000402374.2:p.Asp115Glu | |
| ENST00000432161.5:c.345T>A | ENSP00000389197.1:p.Asp115Glu | |
| ENST00000438242.1:c.177T>A | ENSP00000397042.1:p.Asp59Glu | |
| ENST00000468877.2:n.255T>A | ||
| ENST00000470851.1:n.9T>A | ||
| NM_001190906.1:c.345T>A | NP_001177835.1:p.Asp115Glu | |
| NM_001190907.1:c.345T>A | NP_001177836.1:p.Asp115Glu | |
| NM_005989.3:c.345T>A | NP_005980.1:p.Asp115Glu | |
| NM_005989.4:c.345T>A MANE Select | NP_005980.1:p.Asp115Glu | |
| NM_001190906.2:c.345T>A | NP_001177835.1:p.Asp115Glu | |
| NM_001190907.2:c.345T>A | NP_001177836.1:p.Asp115Glu |