Linked Data
ClinVar Variation Id:
1434136
dbSNP Id:
rs138901102
ExAC:
19:36398481 A / T
gnomAD v2:
19-36398481-A-T
gnomAD v3:
19-35907579-A-T
gnomAD v4:
19-35907579-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907579A>T , CM000681.2:g.35907579A>T | GRCh38 |
| NC_000019.9:g.36398481A>T , CM000681.1:g.36398481A>T | GRCh37 |
| NC_000019.8:g.41090321A>T | NCBI36 |
| NG_009304.1:g.5706T>A , LRG_607:g.5706T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.96T>A MANE Select | ENSP00000262629.3:p.Asp32Glu | |
| ENST00000262629.8:c.96T>A | ENSP00000262629.3:p.Asp32Glu | |
| ENST00000424586.7:c.63T>A | ENSP00000402371.3:p.Asp21Glu | |
| ENST00000544690.6:c.63T>A | ENSP00000445332.1:p.Asp21Glu | |
| ENST00000585626.1:n.163T>A | ||
| ENST00000585901.6:c.96T>A | ENSP00000468608.1:p.Asp32Glu | |
| ENST00000586946.1:c.89T>A | ENSP00000465656.1:p.Ile30Asn | |
| ENST00000587837.5:c.89T>A | ENSP00000465081.1:p.Ile30Asn | |
| ENST00000588439.1:n.240T>A | ||
| ENST00000589517.1:c.96T>A | ENSP00000468447.1:p.Asp32Glu | |
| NM_001173514.1:c.63T>A | NP_001166985.1:p.Asp21Glu | |
| NM_001173515.1:c.63T>A | NP_001166986.1:p.Asp21Glu | |
| NM_003332.3:c.96T>A , LRG_607t1:c.96T>A | NP_003323.1:p.Asp32Glu | |
| NM_198125.2:c.96T>A | NP_937758.1:p.Asp32Glu | |
| NR_033390.1:n.137T>A | ||
| NM_001173514.2:c.63T>A | NP_001166985.1:p.Asp21Glu | |
| NM_001173515.2:c.63T>A | NP_001166986.1:p.Asp21Glu | |
| NM_003332.4:c.96T>A MANE Select | NP_003323.1:p.Asp32Glu | |
| NM_198125.3:c.96T>A | NP_937758.1:p.Asp32Glu | |
| NR_033390.2:n.123T>A |