Linked Data
ClinVar Variation Id:
540972
ClinVar RCV Id:
RCV000651145
dbSNP Id:
rs765680532
ExAC:
7:2987289 C / T
gnomAD v2:
7-2987289-C-T
gnomAD v4:
7-2947655-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2947655C>T , CM000669.2:g.2947655C>T | GRCh38 |
| NC_000007.13:g.2987289C>T , CM000669.1:g.2987289C>T | GRCh37 |
| NC_000007.12:g.2953815C>T | NCBI36 |
| NG_027759.1:g.101221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.466G>A | ||
| ENST00000698654.1:n.365G>A | ||
| ENST00000698662.1:n.340G>A | ||
| ENST00000396946.9:c.140G>A MANE Select | ENSP00000380150.4:p.Arg47His | |
| ENST00000356408.3:c.140G>A | ENSP00000348779.3:p.Arg47His | |
| ENST00000396946.8:c.140G>A | ENSP00000380150.4:p.Arg47His | |
| NM_032415.5:c.140G>A | NP_115791.3:p.Arg47His | |
| XM_011515585.1:c.140G>A | XP_011513887.1:p.Arg47His | |
| XM_011515586.1:c.140G>A | XP_011513888.1:p.Arg47His | |
| XM_011515587.1:c.140G>A | XP_011513889.1:p.Arg47His | |
| NM_001324281.1:c.140G>A | NP_001311210.1:p.Arg47His | |
| XM_011515586.2:c.140G>A | XP_011513888.1:p.Arg47His | |
| XM_011515587.2:c.140G>A | XP_011513889.1:p.Arg47His | |
| XR_001744885.1:n.539G>A | ||
| NM_001324281.2:c.140G>A | NP_001311210.1:p.Arg47His | |
| NM_032415.6:c.140G>A | NP_115791.3:p.Arg47His | |
| NM_001324281.3:c.140G>A | NP_001311210.1:p.Arg47His | |
| NM_032415.7:c.140G>A MANE Select | NP_115791.3:p.Arg47His |