Linked Data
ClinVar Variation Id:
88840
ClinVar RCV Id:
RCV000074428
dbSNP Id:
rs483352913
PubMed:
PMID:23666529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58621471C>T , CM000677.2:g.58621471C>T | GRCh38 |
| NC_000015.9:g.58913670C>T , CM000677.1:g.58913670C>T | GRCh37 |
| NC_000015.8:g.56700962C>T | NCBI36 |
| NG_033876.1:g.133508G>A | |
| NG_033876.2:g.133237G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260408.8:c.1511G>A MANE Select | ENSP00000260408.3:p.Ser504Asn | |
| ENST00000260408.7:c.1511G>A | ENSP00000260408.3:p.Ser504Asn | |
| ENST00000396136.6:c.1337G>A | ||
| ENST00000402627.5:c.154+11844G>A | ENSP00000386056.1:n.154+11844G>A | |
| ENST00000462061.1:n.71G>A | ||
| ENST00000470269.5:n.40G>A | ||
| ENST00000475898.1:n.536G>A | ||
| ENST00000481164.1:n.34G>A | ||
| ENST00000482945.5:n.34G>A | ||
| ENST00000561288.1:c.56-23953G>A | ENSP00000452639.1:n.56-23953G>A | |
| NM_001110.3:c.1511G>A | NP_001101.1:p.Ser504Asn | |
| XM_005254117.2:c.1418G>A | XP_005254174.1:p.Ser473Asn | |
| NM_001320570.1:c.1418G>A | NP_001307499.1:p.Ser473Asn | |
| XM_024449818.1:c.1289G>A | XP_024305586.1:p.Ser430Asn | |
| NM_001110.4:c.1511G>A MANE Select | NP_001101.1:p.Ser504Asn | |
| NM_001320570.2:c.1418G>A | NP_001307499.1:p.Ser473Asn |