Linked Data
ClinVar Variation Id:
918186
dbSNP Id:
rs571906167
ExAC:
15:48703308 C / T
gnomAD v2:
15-48703308-C-T
gnomAD v3:
15-48411111-C-T
gnomAD v4:
15-48411111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411111C>T , CM000677.2:g.48411111C>T | GRCh38 |
| NC_000015.9:g.48703308C>T , CM000677.1:g.48703308C>T | GRCh37 |
| NC_000015.8:g.46490600C>T | NCBI36 |
| NG_008805.2:g.239678G>A , LRG_778:g.239678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1303G>A | ENSP00000453958.2:n.*1303G>A | |
| ENST00000674301.2:c.*2008G>A | ENSP00000501333.2:n.*2008G>A | |
| ENST00000682158.1:n.1876G>A | ||
| ENST00000682170.1:n.2676G>A | ||
| ENST00000682767.1:n.1792G>A | ||
| ENST00000316623.10:c.8495G>A MANE Select | ENSP00000325527.5:p.Ser2832Asn | |
| ENST00000674301.1:c.3661G>A | ENSP00000501333.1:n.3661G>A | |
| ENST00000316623.9:c.8495G>A | ENSP00000325527.5:p.Ser2832Asn | |
| ENST00000559133.5:c.3864G>A | ||
| NM_000138.4:c.8495G>A , LRG_778t1:c.8495G>A | NP_000129.3:p.Ser2832Asn | |
| NM_000138.5:c.8495G>A MANE Select | NP_000129.3:p.Ser2832Asn |