Linked Data
ClinVar Variation Id:
437164
ClinVar RCV Id:
RCV000499778
dbSNP Id:
rs6010209
gnomAD v3:
22-50221071-A-T
gnomAD v4:
22-50221071-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221071A>T , CM000684.2:g.50221071A>T | GRCh38 |
| NC_000022.10:g.50659500A>T , CM000684.1:g.50659500A>T | GRCh37 |
| NC_000022.9:g.49001627A>T | NCBI36 |
| NG_032160.1:g.28901T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248846.10:c.3288T>A MANE Select | ENSP00000248846.5:p.Asp1096Glu | |
| ENST00000248846.9:c.3288T>A | ENSP00000248846.5:p.Asp1096Glu | |
| ENST00000439308.6:c.3288T>A | ENSP00000397387.2:p.Asp1096Glu | |
| ENST00000491449.5:n.1595T>A | ||
| ENST00000498611.5:n.3617+204T>A | ||
| NM_020461.3:c.3288T>A | NP_065194.2:p.Asp1096Glu | |
| XR_938347.1:n.3853T>A | ||
| XR_938348.1:n.3049+957T>A | ||
| XR_001755343.2:n.3857T>A | ||
| XR_001755344.2:n.3857T>A | ||
| XR_002958720.1:n.3053+957T>A | ||
| XR_938347.2:n.3857T>A | ||
| NM_020461.4:c.3288T>A MANE Select | NP_065194.3:p.Asp1096Glu |