Linked Data
ClinVar Variation Id:
162100
ClinVar RCV Id:
RCV000149510
dbSNP Id:
rs690016545
PubMed:
PMID:25008398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567598G>A , CM000674.2:g.57567598G>A | GRCh38 |
| NC_000012.11:g.57961381G>A , CM000674.1:g.57961381G>A | GRCh37 |
| NC_000012.10:g.56247648G>A | NCBI36 |
| NG_008155.1:g.22535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.694G>A MANE Select | ENSP00000408979.2:p.Asp232Asn | |
| ENST00000674619.1:c.694G>A | ENSP00000502270.1:p.Asp232Asn | |
| ENST00000676457.1:c.589G>A | ENSP00000501588.1:p.Asp197Asn | |
| ENST00000286452.5:c.427G>A | ENSP00000286452.5:p.Asp143Asn | |
| ENST00000455537.6:c.694G>A | ENSP00000408979.2:p.Asp232Asn | |
| NM_004984.2:c.694G>A | NP_004975.2:p.Asp232Asn | |
| NM_001354705.1:c.427G>A | NP_001341634.1:p.Asp143Asn | |
| NM_004984.3:c.694G>A | NP_004975.2:p.Asp232Asn | |
| XR_002957324.1:n.927G>A | ||
| NM_004984.4:c.694G>A MANE Select | NP_004975.2:p.Asp232Asn | |
| NM_001354705.2:c.427G>A | NP_001341634.1:p.Asp143Asn |