Linked Data
ClinVar Variation Id:
691192
dbSNP Id:
rs1597932610
MyVariant Identifiers:
chr17:g.46804242G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726880G>A , CM000679.2:g.48726880G>A | GRCh38 |
| NC_000017.10:g.46804242G>A , CM000679.1:g.46804242G>A | GRCh37 |
| NC_000017.9:g.44159241G>A | NCBI36 |
| NG_033789.1:g.6870C>T , LRG_771:g.6870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.765C>T MANE Select | ENSP00000290295.8:p.Leu255= | |
| ENST00000290295.7:c.765C>T | ENSP00000290295.7:p.Leu255= | |
| NM_006361.5:c.765C>T , LRG_771t1:c.765C>T | NP_006352.2:p.Leu255= | |
| NM_006361.6:c.765C>T MANE Select | NP_006352.2:p.Leu255= |