Linked Data
ClinVar Variation Id:
2866651
ClinVar RCV Id:
RCV003700338
dbSNP Id:
rs762066540
ExAC:
15:66172016 T / C
gnomAD v2:
15-66172016-T-C
gnomAD v3:
15-65879678-T-C
gnomAD v4:
15-65879678-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65879678T>C , CM000677.2:g.65879678T>C | GRCh38 |
| NC_000015.9:g.66172016T>C , CM000677.1:g.66172016T>C | GRCh37 |
| NC_000015.8:g.63959070T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261890.7:c.438T>C MANE Select | ENSP00000261890.2:p.Asn146= | |
| ENST00000261890.6:c.438T>C | ENSP00000261890.2:p.Asn146= | |
| ENST00000564910.5:c.228T>C | ENSP00000455567.1:p.Asn76= | |
| ENST00000565075.5:c.431-47T>C | ENSP00000456638.1:n.431-47T>C | |
| ENST00000566233.5:c.430+1723T>C | ENSP00000454381.1:n.430+1723T>C | |
| ENST00000567671.1:c.81T>C | ENSP00000454673.1:p.Asn27= | |
| ENST00000569304.1:n.125-8023T>C | ||
| ENST00000569896.1:c.438T>C | ENSP00000456420.1:p.Asn146= | |
| NM_001206836.1:c.438T>C | NP_001193765.1:p.Asn146= | |
| NM_004663.4:c.438T>C | NP_004654.1:p.Asn146= | |
| NM_004663.5:c.438T>C MANE Select | NP_004654.1:p.Asn146= | |
| NM_001206836.2:c.438T>C | NP_001193765.1:p.Asn146= |