Linked Data
ClinVar Variation Id:
328822
dbSNP Id:
rs201865747
ExAC:
19:34002004 C / T
gnomAD v2:
19-34002004-C-T
gnomAD v3:
19-33511098-C-T
gnomAD v4:
19-33511098-C-T
COSMIC:
COSM994708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33511098C>T , CM000681.2:g.33511098C>T | GRCh38 |
| NC_000019.9:g.34002004C>T , CM000681.1:g.34002004C>T | GRCh37 |
| NC_000019.8:g.38693844C>T | NCBI36 |
| NG_013358.1:g.15796G>A | |
| NG_013358.2:g.15796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.259G>A | ENSP00000468516.4:p.Asp87Asn | |
| ENST00000651646.2:c.259G>A | ENSP00000498950.2:p.Asp87Asn | |
| ENST00000651901.2:c.259G>A | ENSP00000498922.2:p.Asp87Asn | |
| ENST00000698359.1:c.259G>A | ENSP00000513682.1:p.Asp87Asn | |
| ENST00000698360.1:c.259G>A | ENSP00000513683.1:p.Asp87Asn | |
| ENST00000698361.1:c.259G>A | ENSP00000513684.1:p.Asp87Asn | |
| ENST00000698362.1:c.259G>A | ENSP00000513685.1:p.Asp87Asn | |
| ENST00000698363.1:n.322G>A | ||
| ENST00000698364.1:n.322G>A | ||
| ENST00000698365.1:n.322G>A | ||
| ENST00000698426.1:c.-63G>A | ENSP00000513713.1:n.-63G>A | |
| ENST00000698427.1:c.301G>A | ENSP00000513714.1:p.Asp101Asn | |
| ENST00000698428.1:c.-63G>A | ENSP00000513715.1:n.-63G>A | |
| ENST00000698431.1:c.58G>A | ENSP00000513717.1:p.Asp20Asn | |
| ENST00000698432.1:c.242G>A | ||
| ENST00000698435.1:c.18-10097G>A | ENSP00000513719.1:n.18-10097G>A | |
| ENST00000698436.1:c.219G>A | ENSP00000513720.1:p.Ser73= | |
| ENST00000698437.1:n.242G>A | ||
| ENST00000698438.1:n.241G>A | ||
| ENST00000698439.1:c.226G>A | ENSP00000513721.1:p.Asp76Asn | |
| ENST00000244137.12:c.259G>A MANE Select | ENSP00000244137.5:p.Asp87Asn | |
| ENST00000588328.6:c.248G>A | ||
| ENST00000593163.6:n.424G>A | ||
| ENST00000651646.1:c.257G>A | ||
| ENST00000651901.1:c.255G>A | ||
| ENST00000244137.11:c.259G>A | ENSP00000244137.5:p.Asp87Asn | |
| ENST00000397032.8:c.259G>A | ENSP00000380226.3:p.Asp87Asn | |
| ENST00000436370.7:c.201+1495G>A | ENSP00000391890.2:n.201+1495G>A | |
| ENST00000590408.1:c.41G>A | ||
| ENST00000593163.5:n.424G>A | ||
| NM_000285.3:c.259G>A | NP_000276.2:p.Asp87Asn | |
| NM_001166056.1:c.259G>A | NP_001159528.1:p.Asp87Asn | |
| NM_001166057.1:c.201+1495G>A | NP_001159529.1:n.201+1495G>A | |
| NM_000285.4:c.259G>A MANE Select | NP_000276.2:p.Asp87Asn | |
| NM_001166056.2:c.259G>A | NP_001159528.1:p.Asp87Asn | |
| NM_001166057.2:c.201+1495G>A | NP_001159529.1:n.201+1495G>A |