Linked Data
ClinVar Variation Id:
1965354
ClinVar RCV Id:
RCV002726742
dbSNP Id:
rs752925492
ExAC:
6:100055029 G / A
gnomAD v2:
6-100055029-G-A
gnomAD v4:
6-99607153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99607153G>A , CM000668.2:g.99607153G>A | GRCh38 |
| NC_000006.11:g.100055029G>A , CM000668.1:g.100055029G>A | GRCh37 |
| NC_000006.10:g.100161750G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.119G>A MANE Select | ENSP00000358217.5:p.Arg40His | |
| ENST00000369214.2:c.119G>A | ENSP00000358216.2:p.Arg40His | |
| ENST00000369215.4:c.119G>A | ENSP00000358217.4:p.Arg40His | |
| NM_021620.3:c.119G>A | NP_067633.2:p.Arg40His | |
| NM_021620.4:c.119G>A MANE Select | NP_067633.2:p.Arg40His |