Linked Data
ClinVar Variation Id:
133324
ClinVar RCV Id:
RCV000119836
dbSNP Id:
rs587777418
gnomAD v4:
15-65006127-C-T
PubMed:
PMID:24461907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65006127C>T , CM000677.2:g.65006127C>T | GRCh38 |
| NC_000015.9:g.65298465C>T , CM000677.1:g.65298465C>T | GRCh37 |
| NC_000015.8:g.63085518C>T | NCBI36 |
| NG_029184.1:g.28513G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220058.9:c.878G>A MANE Select | ENSP00000220058.4:p.Ser293Asn | |
| ENST00000220058.8:c.878G>A | ENSP00000220058.4:p.Ser293Asn | |
| ENST00000558460.5:c.878G>A | ENSP00000452646.1:p.Ser293Asn | |
| ENST00000560717.5:c.753G>A | ENSP00000457257.1:n.753G>A | |
| NM_139242.3:c.878G>A | NP_640335.2:p.Ser293Asn | |
| XM_005254158.3:c.623G>A | XP_005254215.1:p.Ser208Asn | |
| XM_005254158.5:c.1031G>A | XP_005254215.2:p.Ser344Asn | |
| NM_139242.4:c.878G>A MANE Select | NP_640335.2:p.Ser293Asn |