Linked Data
ClinVar Variation Id:
943647
ClinVar RCV Id:
RCV001213881
dbSNP Id:
rs752722523
ExAC:
17:46804163 C / T
gnomAD v2:
17-46804163-C-T
gnomAD v4:
17-48726801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726801C>T , CM000679.2:g.48726801C>T | GRCh38 |
| NC_000017.10:g.46804163C>T , CM000679.1:g.46804163C>T | GRCh37 |
| NC_000017.9:g.44159162C>T | NCBI36 |
| NG_033789.1:g.6949G>A , LRG_771:g.6949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.844G>A MANE Select | ENSP00000290295.8:p.Ala282Thr | |
| ENST00000290295.7:c.844G>A | ENSP00000290295.7:p.Ala282Thr | |
| NM_006361.5:c.844G>A , LRG_771t1:c.844G>A | NP_006352.2:p.Ala282Thr | |
| NM_006361.6:c.844G>A MANE Select | NP_006352.2:p.Ala282Thr |