Linked Data
ClinVar Variation Id:
155792
ClinVar RCV Id:
RCV000143892
RCV000181517
RCV000381005
RCV000397810
RCV000298555
RCV000291329
RCV000302074
RCV000346355
RCV000405079
RCV000818523
dbSNP Id:
rs587782945
ExAC:
15:48764771 C / T
gnomAD v2:
15-48764771-C-T
gnomAD v3:
15-48472574-C-T
gnomAD v4:
15-48472574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472574C>T , CM000677.2:g.48472574C>T | GRCh38 |
| NC_000015.9:g.48764771C>T , CM000677.1:g.48764771C>T | GRCh37 |
| NC_000015.8:g.46552063C>T | NCBI36 |
| NG_008805.2:g.178215G>A , LRG_778:g.178215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4313G>A | ENSP00000453958.2:p.Ser1438Asn | |
| ENST00000674301.2:c.4313G>A | ENSP00000501333.2:p.Ser1438Asn | |
| ENST00000683268.1:n.280G>A | ||
| ENST00000684448.1:n.2987G>A | ||
| ENST00000316623.10:c.4313G>A MANE Select | ENSP00000325527.5:p.Ser1438Asn | |
| ENST00000316623.9:c.4313G>A | ENSP00000325527.5:p.Ser1438Asn | |
| ENST00000537463.6:c.*76G>A | ENSP00000440294.2:n.*76G>A | |
| NM_000138.4:c.4313G>A , LRG_778t1:c.4313G>A | NP_000129.3:p.Ser1438Asn | |
| NM_000138.5:c.4313G>A MANE Select | NP_000129.3:p.Ser1438Asn |