Linked Data
ClinVar Variation Id:
287932
dbSNP Id:
rs61735535
ExAC:
13:43148586 C / T
gnomAD v2:
13-43148586-C-T
gnomAD v3:
13-42574450-C-T
gnomAD v4:
13-42574450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42574450C>T , CM000675.2:g.42574450C>T | GRCh38 |
| NC_000013.10:g.43148586C>T , CM000675.1:g.43148586C>T | GRCh37 |
| NC_000013.9:g.42046586C>T | NCBI36 |
| NG_008990.1:g.16715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.147C>T MANE Select | ENSP00000381775.3:p.Phe49= | |
| ENST00000239849.8:c.6C>T | ENSP00000239849.7:p.Phe2= | |
| ENST00000358545.6:c.-1+2712C>T | ENSP00000351347.2:n.-1+2712C>T | |
| ENST00000398795.6:c.147C>T | ENSP00000381775.3:p.Phe49= | |
| ENST00000405262.6:c.-1+2712C>T | ENSP00000384042.2:n.-1+2712C>T | |
| ENST00000544862.5:c.-54-19C>T | ENSP00000444913.1:n.-54-19C>T | |
| NM_003701.3:c.147C>T | NP_003692.1:p.Phe49= | |
| NM_033012.3:c.-1+2712C>T | NP_143026.1:n.-1+2712C>T | |
| NM_003701.4:c.147C>T MANE Select | NP_003692.1:p.Phe49= | |
| NM_033012.4:c.-1+2712C>T | NP_143026.1:n.-1+2712C>T |