Linked Data
ClinVar Variation Id:
88843
ClinVar RCV Id:
RCV000074431
dbSNP Id:
rs483352916
PubMed:
PMID:23666529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58611932C>T , CM000677.2:g.58611932C>T | GRCh38 |
| NC_000015.9:g.58904131C>T , CM000677.1:g.58904131C>T | GRCh37 |
| NC_000015.8:g.56691423C>T | NCBI36 |
| NG_033876.1:g.143047G>A | |
| NG_033876.2:g.142776G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260408.8:c.1571G>A MANE Select | ENSP00000260408.3:p.Cys524Tyr | |
| ENST00000260408.7:c.1571G>A | ENSP00000260408.3:p.Cys524Tyr | |
| ENST00000396136.6:c.1397G>A | ||
| ENST00000402627.5:c.155-14414G>A | ENSP00000386056.1:n.155-14414G>A | |
| ENST00000462061.1:n.131G>A | ||
| ENST00000470269.5:n.100G>A | ||
| ENST00000475898.1:n.596G>A | ||
| ENST00000481164.1:n.94G>A | ||
| ENST00000482945.5:n.94G>A | ||
| ENST00000561288.1:c.56-14414G>A | ENSP00000452639.1:n.56-14414G>A | |
| NM_001110.3:c.1571G>A | NP_001101.1:p.Cys524Tyr | |
| XM_005254117.2:c.1478G>A | XP_005254174.1:p.Cys493Tyr | |
| NM_001320570.1:c.1478G>A | NP_001307499.1:p.Cys493Tyr | |
| XM_024449818.1:c.1349G>A | XP_024305586.1:p.Cys450Tyr | |
| NM_001110.4:c.1571G>A MANE Select | NP_001101.1:p.Cys524Tyr | |
| NM_001320570.2:c.1478G>A | NP_001307499.1:p.Cys493Tyr |