Linked Data
ClinVar Variation Id:
483529
dbSNP Id:
rs367732101
gnomAD v2:
17-46804234-C-T
gnomAD v4:
17-48726872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726872C>T , CM000679.2:g.48726872C>T | GRCh38 |
| NC_000017.10:g.46804234C>T , CM000679.1:g.46804234C>T | GRCh37 |
| NC_000017.9:g.44159233C>T | NCBI36 |
| NG_033789.1:g.6878G>A , LRG_771:g.6878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.773G>A MANE Select | ENSP00000290295.8:p.Arg258His | |
| ENST00000290295.7:c.773G>A | ENSP00000290295.7:p.Arg258His | |
| NM_006361.5:c.773G>A , LRG_771t1:c.773G>A | NP_006352.2:p.Arg258His | |
| NM_006361.6:c.773G>A MANE Select | NP_006352.2:p.Arg258His |