Linked Data
ClinVar Variation Id:
10792
ClinVar RCV Id:
RCV000011539
dbSNP Id:
rs17261572
ExAC:
X:119760629 A / T
gnomAD v2:
X-119760629-A-T
gnomAD v3:
X-120626774-A-T
gnomAD v4:
X-120626774-A-T
PubMed:
PMID:16251947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120626774A>T , CM000685.2:g.120626774A>T | GRCh38 |
| NC_000023.10:g.119760629A>T , CM000685.1:g.119760629A>T | GRCh37 |
| NC_000023.9:g.119644657A>T | NCBI36 |
| NG_016219.1:g.8377T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304661.6:c.393T>A MANE Select | ENSP00000304364.5:p.Asp131Glu | |
| ENST00000304661.5:c.393T>A | ENSP00000304364.5:p.Asp131Glu | |
| ENST00000371313.2:c.393T>A | ENSP00000360363.2:p.Asp131Glu | |
| NM_001011551.2:c.393T>A | NP_001011551.1:p.Asp131Glu | |
| NM_152692.4:c.393T>A | NP_689905.1:p.Asp131Glu | |
| NM_001011551.3:c.393T>A MANE Select | NP_001011551.1:p.Asp131Glu | |
| NM_152692.5:c.393T>A | NP_689905.1:p.Asp131Glu |