Linked Data
ClinVar Variation Id:
767956
ClinVar RCV Id:
RCV000946791
dbSNP Id:
rs61744465
ExAC:
4:70921227 T / C
gnomAD v2:
4-70921227-T-C
gnomAD v3:
4-70055510-T-C
gnomAD v4:
4-70055510-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70055510T>C , CM000666.2:g.70055510T>C | GRCh38 |
| NC_000004.11:g.70921227T>C , CM000666.1:g.70921227T>C | GRCh37 |
| NC_000004.10:g.70955816T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246896.8:c.115T>C MANE Select | ENSP00000246896.3:p.Ser39Pro | |
| ENST00000246896.7:c.115T>C | ENSP00000246896.3:p.Ser39Pro | |
| ENST00000503645.5:n.264T>C | ||
| ENST00000506754.1:n.388T>C | ||
| ENST00000511674.5:c.115T>C | ENSP00000424501.1:p.Ser39Pro | |
| ENST00000610341.1:c.115T>C | ENSP00000482787.1:p.Ser39Pro | |
| NM_002159.3:c.115T>C | NP_002150.1:p.Ser39Pro | |
| NM_001368990.1:c.94T>C | NP_001355919.1:p.Ser32Pro | |
| NM_002159.4:c.115T>C MANE Select | NP_002150.1:p.Ser39Pro |