Linked Data
dbSNP Id:
rs756116692
ExAC:
17:39022879 C / T
gnomAD v2:
17-39022879-C-T
gnomAD v3:
17-40866627-C-T
gnomAD v4:
17-40866627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866627C>T , CM000679.2:g.40866627C>T | GRCh38 |
| NC_000017.10:g.39022879C>T , CM000679.1:g.39022879C>T | GRCh37 |
| NC_000017.9:g.36276405C>T | NCBI36 |
| NG_008077.1:g.5584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.560G>A MANE Select | ENSP00000251643.4:p.Arg187Lys | |
| ENST00000647902.1:c.452G>A | ENSP00000497770.1:p.Arg151Lys | |
| ENST00000251643.4:c.560G>A | ENSP00000251643.4:p.Arg187Lys | |
| NM_000223.3:c.560G>A | NP_000214.1:p.Arg187Lys | |
| XR_934754.1:n.1500+15767C>T | ||
| XR_934754.2:n.2008+15767C>T | ||
| NM_000223.4:c.560G>A MANE Select | NP_000214.1:p.Arg187Lys |