Linked Data
ClinVar Variation Id:
8691
dbSNP Id:
rs121908192
ExAC:
16:2035992 G / A
gnomAD v2:
16-2035992-G-A
gnomAD v3:
16-1985991-G-A
gnomAD v4:
16-1985991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985991G>A , CM000678.2:g.1985991G>A | GRCh38 |
| NC_000016.9:g.2035992G>A , CM000678.1:g.2035992G>A | GRCh37 |
| NC_000016.8:g.1975993G>A | NCBI36 |
| NG_016288.1:g.6843G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567719.2:c.356G>A | ENSP00000455885.1:p.Arg119His | |
| ENST00000248114.7:c.581G>A MANE Select | ENSP00000248114.6:p.Arg194His | |
| ENST00000248114.6:c.581G>A | ENSP00000248114.6:p.Arg194His | |
| ENST00000565658.1:n.738G>A | ||
| ENST00000567719.1:c.356G>A | ENSP00000455885.1:p.Arg119His | |
| ENST00000569451.1:c.*54G>A | ENSP00000456432.1:n.*54G>A | |
| NM_005262.2:c.581G>A | NP_005253.3:p.Arg194His | |
| NM_005262.3:c.581G>A MANE Select | NP_005253.3:p.Arg194His |