Linked Data
ClinVar Variation Id:
1703212
ClinVar RCV Id:
RCV002280335
dbSNP Id:
rs767625681
ExAC:
1:171621732 C / T
gnomAD v2:
1-171621732-C-T
gnomAD v4:
1-171652592-C-T
ERepo:
CA1244346/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652592C>T , CM000663.2:g.171652592C>T | GRCh38 |
| NC_000001.10:g.171621732C>T , CM000663.1:g.171621732C>T | GRCh37 |
| NC_000001.9:g.169888355C>T | NCBI36 |
| NG_008859.1:g.5042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.20G>A MANE Select | ENSP00000037502.5:p.Arg7His | |
| ENST00000638471.1:c.20G>A | ENSP00000491206.1:p.Arg7His | |
| ENST00000037502.10:c.20G>A | ENSP00000037502.5:p.Arg7His | |
| ENST00000614688.1:c.20G>A | ENSP00000478680.1:p.Arg7His | |
| NM_000261.1:c.20G>A | NP_000252.1:p.Arg7His | |
| NM_000261.2:c.20G>A MANE Select | NP_000252.1:p.Arg7His |