Linked Data
ClinVar Variation Id:
800534
dbSNP Id:
rs552452349
ExAC:
7:97481608 C / T
gnomAD v2:
7-97481608-C-T
gnomAD v3:
7-97852296-C-T
gnomAD v4:
7-97852296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97852296C>T , CM000669.2:g.97852296C>T | GRCh38 |
| NC_000007.13:g.97481608C>T , CM000669.1:g.97481608C>T | GRCh37 |
| NC_000007.12:g.97319544C>T | NCBI36 |
| NG_033870.1:g.25247G>A | |
| NG_033870.2:g.81267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394308.8:c.1649G>A MANE Select | ENSP00000377845.3:p.Arg550His | |
| ENST00000175506.8:c.1649G>A | ENSP00000175506.4:p.Arg550His | |
| ENST00000394308.7:c.1649G>A | ENSP00000377845.3:p.Arg550His | |
| ENST00000394309.7:c.1649G>A | ENSP00000377846.3:p.Arg550His | |
| ENST00000422745.5:c.1586G>A | ENSP00000414901.1:p.Arg529His | |
| ENST00000437628.5:c.1400G>A | ENSP00000414379.1:p.Arg467His | |
| ENST00000444334.5:c.1586G>A | ENSP00000406994.1:p.Arg529His | |
| ENST00000454046.5:c.*517G>A | ENSP00000401651.1:n.*517G>A | |
| ENST00000455086.5:c.1400G>A | ENSP00000408472.1:p.Arg467His | |
| NM_001178075.1:c.1586G>A | NP_001171546.1:p.Arg529His | |
| NM_001178076.1:c.1400G>A | NP_001171547.1:p.Arg467His | |
| NM_001178077.1:c.1400G>A | NP_001171548.1:p.Arg467His | |
| NM_001673.4:c.1649G>A | NP_001664.3:p.Arg550His | |
| NM_133436.3:c.1649G>A | NP_597680.2:p.Arg550His | |
| NM_183356.3:c.1649G>A | NP_899199.2:p.Arg550His | |
| NM_001352496.1:c.1649G>A | NP_001339425.1:p.Arg550His | |
| NR_147989.1:n.3352G>A | ||
| NM_001673.5:c.1649G>A MANE Select | NP_001664.3:p.Arg550His | |
| NM_001178075.2:c.1586G>A | NP_001171546.1:p.Arg529His | |
| NM_001178076.2:c.1400G>A | NP_001171547.1:p.Arg467His | |
| NM_001352496.2:c.1649G>A | NP_001339425.1:p.Arg550His | |
| NM_183356.4:c.1649G>A | NP_899199.2:p.Arg550His |