Linked Data
ClinVar Variation Id:
942416
ClinVar RCV Id:
RCV001212402
dbSNP Id:
rs139329047
ExAC:
10:13325758 C / T
gnomAD v2:
10-13325758-C-T
gnomAD v3:
10-13283758-C-T
gnomAD v4:
10-13283758-C-T
COSMIC:
COSM241131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283758C>T , CM000672.2:g.13283758C>T | GRCh38 |
| NC_000010.10:g.13325758C>T , CM000672.1:g.13325758C>T | GRCh37 |
| NC_000010.9:g.13365764C>T | NCBI36 |
| NG_012862.1:g.21373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.760G>A MANE Select | ENSP00000263038.4:p.Asp254Asn | |
| ENST00000263038.8:c.760G>A | ENSP00000263038.4:p.Asp254Asn | |
| ENST00000396913.6:c.460G>A | ENSP00000380121.2:p.Asp154Asn | |
| ENST00000396920.7:c.709G>A | ENSP00000380126.3:p.Asp237Asn | |
| ENST00000453759.6:c.460G>A | ENSP00000412525.2:p.Asp154Asn | |
| NM_001037537.1:c.460G>A | NP_001032626.1:p.Asp154Asn | |
| NM_006214.3:c.760G>A | NP_006205.1:p.Asp254Asn | |
| XM_005252469.2:c.541G>A | XP_005252526.1:p.Asp181Asn | |
| NM_001323080.1:c.460G>A | NP_001310009.1:p.Asp154Asn | |
| NM_001323082.1:c.766G>A | NP_001310011.1:p.Asp256Asn | |
| NM_001323083.1:c.496G>A | NP_001310012.1:p.Asp166Asn | |
| NM_001323084.1:c.466G>A | NP_001310013.1:p.Asp156Asn | |
| NM_006214.4:c.760G>A MANE Select | NP_006205.1:p.Asp254Asn | |
| NM_001037537.2:c.460G>A | NP_001032626.1:p.Asp154Asn | |
| NM_001323080.2:c.460G>A | NP_001310009.1:p.Asp154Asn | |
| NM_001323082.2:c.766G>A | NP_001310011.1:p.Asp256Asn | |
| NM_001323083.2:c.496G>A | NP_001310012.1:p.Asp166Asn | |
| NM_001323084.2:c.466G>A | NP_001310013.1:p.Asp156Asn |