Linked Data
ClinVar Variation Id:
299028
ClinVar RCV Id:
RCV000275891
dbSNP Id:
rs10490923
ExAC:
10:124214251 G / A
gnomAD v2:
10-124214251-G-A
gnomAD v3:
10-122454735-G-A
gnomAD v4:
10-122454735-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122454735G>A , CM000672.2:g.122454735G>A | GRCh38 |
| NC_000010.10:g.124214251G>A , CM000672.1:g.124214251G>A | GRCh37 |
| NC_000010.9:g.124204241G>A | NCBI36 |
| NG_011725.1:g.5073G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528446.1:c.8G>A MANE Select | ENSP00000436682.1:p.Arg3His | |
| NM_001099667.1:c.8G>A | NP_001093137.1:p.Arg3His | |
| XR_946382.1:n.1827+3760C>T | ||
| XR_946383.1:n.1827+3760C>T | ||
| XR_946384.1:n.1576+3760C>T | ||
| NM_001099667.2:c.8G>A | NP_001093137.1:p.Arg3His | |
| XR_946382.2:n.1855+3760C>T | ||
| XR_946383.2:n.1855+3760C>T | ||
| XR_946384.2:n.1580+3760C>T | ||
| NM_001099667.3:c.8G>A MANE Select | NP_001093137.1:p.Arg3His |