Linked Data
ClinVar Variation Id:
2024289
ClinVar RCV Id:
RCV002863207
dbSNP Id:
rs1908181043
gnomAD v3:
17-72123654-C-T
gnomAD v4:
17-72123654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123654C>T , CM000679.2:g.72123654C>T | GRCh38 |
| NC_000017.10:g.70119795C>T , CM000679.1:g.70119795C>T | GRCh37 |
| NC_000017.9:g.67631390C>T | NCBI36 |
| NG_012490.1:g.7635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.797C>T MANE Select | ENSP00000245479.2:p.Pro266Leu | |
| ENST00000245479.2:c.797C>T | ENSP00000245479.2:p.Pro266Leu | |
| NM_000346.3:c.797C>T | NP_000337.1:p.Pro266Leu | |
| NM_000346.4:c.797C>T MANE Select | NP_000337.1:p.Pro266Leu |